SNP Links for Protein (Select 1100819009) - SNP

Links from Protein

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Select item 14909384001.

rs1490938400 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:21536723 (GRCh38)
19:21719525 (GRCh37)
Canonical SPDI:: NC_000019.10:21536722:G:A
Gene:: ZNF429 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.21536723G>A, NC_000019.9:g.21719525G>A, NM_001001415.4:c.670G>A, NM_001001415.3:c.670G>A, NM_001001415.2:c.670G>A, XM_017026748.3:c.715G>A, XM_017026748.2:c.715G>A, XM_017026748.1:c.715G>A, NM_001346914.2:c.574G>A, NM_001346914.1:c.574G>A, NM_001346912.2:c.664G>A, NM_001346912.1:c.664G>A, NM_001346913.2:c.574G>A, NM_001346913.1:c.574G>A, NM_001346915.2:c.574G>A, NM_001346915.1:c.574G>A, XM_017026752.2:c.574G>A, XM_017026752.1:c.574G>A, NM_001346916.2:c.478G>A, NM_001346916.1:c.478G>A, XM_047438765.1:c.715G>A, NP_001001415.2:p.Val224Ile, XP_016882237.1:p.Val239Ile, NP_001333843.1:p.Val192Ile, NP_001333841.1:p.Val222Ile, NP_001333842.1:p.Val192Ile, NP_001333844.1:p.Val192Ile, XP_016882241.1:p.Val192Ile, NP_001333845.1:p.Val160Ile, XP_047294721.1:p.Val239Ile

Select item 14881601152.

rs1488160115 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:21537395 (GRCh38)
19:21720197 (GRCh37)
Canonical SPDI:: NC_000019.10:21537394:A:G
Gene:: ZNF429 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21537395A>G, NC_000019.9:g.21720197A>G, NM_001001415.4:c.1342A>G, NM_001001415.3:c.1342A>G, NM_001001415.2:c.1342A>G, XM_017026748.3:c.1387A>G, XM_017026748.2:c.1387A>G, XM_017026748.1:c.1387A>G, NM_001346914.2:c.1246A>G, NM_001346914.1:c.1246A>G, NM_001346912.2:c.1336A>G, NM_001346912.1:c.1336A>G, NM_001346913.2:c.1246A>G, NM_001346913.1:c.1246A>G, NM_001346915.2:c.1246A>G, NM_001346915.1:c.1246A>G, XM_017026752.2:c.1246A>G, XM_017026752.1:c.1246A>G, NM_001346916.2:c.1150A>G, NM_001346916.1:c.1150A>G, XM_047438765.1:c.1387A>G, NP_001001415.2:p.Thr448Ala, XP_016882237.1:p.Thr463Ala, NP_001333843.1:p.Thr416Ala, NP_001333841.1:p.Thr446Ala, NP_001333842.1:p.Thr416Ala, NP_001333844.1:p.Thr416Ala, XP_016882241.1:p.Thr416Ala, NP_001333845.1:p.Thr384Ala, XP_047294721.1:p.Thr463Ala

Select item 14855215803.

rs1485521580 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:21537264 (GRCh38)
19:21720066 (GRCh37)
Canonical SPDI:: NC_000019.10:21537263:G:A
Gene:: ZNF429 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.21537264G>A, NC_000019.9:g.21720066G>A, NM_001001415.4:c.1211G>A, NM_001001415.3:c.1211G>A, NM_001001415.2:c.1211G>A, XM_017026748.3:c.1256G>A, XM_017026748.2:c.1256G>A, XM_017026748.1:c.1256G>A, NM_001346914.2:c.1115G>A, NM_001346914.1:c.1115G>A, NM_001346912.2:c.1205G>A, NM_001346912.1:c.1205G>A, NM_001346913.2:c.1115G>A, NM_001346913.1:c.1115G>A, NM_001346915.2:c.1115G>A, NM_001346915.1:c.1115G>A, XM_017026752.2:c.1115G>A, XM_017026752.1:c.1115G>A, NM_001346916.2:c.1019G>A, NM_001346916.1:c.1019G>A, XM_047438765.1:c.1256G>A, NP_001001415.2:p.Arg404Lys, XP_016882237.1:p.Arg419Lys, NP_001333843.1:p.Arg372Lys, NP_001333841.1:p.Arg402Lys, NP_001333842.1:p.Arg372Lys, NP_001333844.1:p.Arg372Lys, XP_016882241.1:p.Arg372Lys, NP_001333845.1:p.Arg340Lys, XP_047294721.1:p.Arg419Lys

Select item 14849271074.

rs1484927107 has merged into rs1422865370 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 19:21537551 (GRCh38)
19:21720353 (GRCh37)
Canonical SPDI:: NC_000019.10:21537550:AAAAAAA:AAAAAA,NC_000019.10:21537550:AAAAAAA:AAAAAAAA
Gene:: ZNF429 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.21537557del, NC_000019.10:g.21537557dup, NC_000019.9:g.21720359del, NC_000019.9:g.21720359dup, NM_001001415.4:c.1504del, NM_001001415.4:c.1504dup, NM_001001415.3:c.1504del, NM_001001415.3:c.1504dup, NM_001001415.2:c.1504del, NM_001001415.2:c.1504dup, XM_017026748.3:c.1549del, XM_017026748.3:c.1549dup, XM_017026748.2:c.1549del, XM_017026748.2:c.1549dup, XM_017026748.1:c.1549del, XM_017026748.1:c.1549dup, NM_001346914.2:c.1408del, NM_001346914.2:c.1408dup, NM_001346914.1:c.1408del, NM_001346914.1:c.1408dup, NM_001346912.2:c.1498del, NM_001346912.2:c.1498dup, NM_001346912.1:c.1498del, NM_001346912.1:c.1498dup, NM_001346913.2:c.1408del, NM_001346913.2:c.1408dup, NM_001346913.1:c.1408del, NM_001346913.1:c.1408dup, NM_001346915.2:c.1408del, NM_001346915.2:c.1408dup, NM_001346915.1:c.1408del, NM_001346915.1:c.1408dup, XM_017026752.2:c.1408del, XM_017026752.2:c.1408dup, XM_017026752.1:c.1408del, XM_017026752.1:c.1408dup, NM_001346916.2:c.1312del, NM_001346916.2:c.1312dup, NM_001346916.1:c.1312del, NM_001346916.1:c.1312dup, XM_047438765.1:c.1549del, XM_047438765.1:c.1549dup, NP_001001415.2:p.Ile502fs, NP_001001415.2:p.Ile502fs, XP_016882237.1:p.Ile517fs, XP_016882237.1:p.Ile517fs, NP_001333843.1:p.Ile470fs, NP_001333843.1:p.Ile470fs, NP_001333841.1:p.Ile500fs, NP_001333841.1:p.Ile500fs, NP_001333842.1:p.Ile470fs, NP_001333842.1:p.Ile470fs, NP_001333844.1:p.Ile470fs, NP_001333844.1:p.Ile470fs, XP_016882241.1:p.Ile470fs, XP_016882241.1:p.Ile470fs, NP_001333845.1:p.Ile438fs, NP_001333845.1:p.Ile438fs, XP_047294721.1:p.Ile517fs, XP_047294721.1:p.Ile517fs

Select item 14845083375.

rs1484508337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:21537155 (GRCh38)
19:21719957 (GRCh37)
Canonical SPDI:: NC_000019.10:21537154:C:A
Gene:: ZNF429 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00018/3 (TOMMO)
HGVS:: NC_000019.10:g.21537155C>A, NC_000019.9:g.21719957C>A, NM_001001415.4:c.1102C>A, NM_001001415.3:c.1102C>A, NM_001001415.2:c.1102C>A, XM_017026748.3:c.1147C>A, XM_017026748.2:c.1147C>A, XM_017026748.1:c.1147C>A, NM_001346914.2:c.1006C>A, NM_001346914.1:c.1006C>A, NM_001346912.2:c.1096C>A, NM_001346912.1:c.1096C>A, NM_001346913.2:c.1006C>A, NM_001346913.1:c.1006C>A, NM_001346915.2:c.1006C>A, NM_001346915.1:c.1006C>A, XM_017026752.2:c.1006C>A, XM_017026752.1:c.1006C>A, NM_001346916.2:c.910C>A, NM_001346916.1:c.910C>A, XM_047438765.1:c.1147C>A, NP_001001415.2:p.Pro368Thr, XP_016882237.1:p.Pro383Thr, NP_001333843.1:p.Pro336Thr, NP_001333841.1:p.Pro366Thr, NP_001333842.1:p.Pro336Thr, NP_001333844.1:p.Pro336Thr, XP_016882241.1:p.Pro336Thr, NP_001333845.1:p.Pro304Thr, XP_047294721.1:p.Pro383Thr

Select item 14830023546.

rs1483002354 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 19:21537612 (GRCh38)
19:21720414 (GRCh37)
Canonical SPDI:: NC_000019.10:21537611:T:A,NC_000019.10:21537611:T:G
Gene:: ZNF429 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000133/5 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000038/5 (GnomAD)
G=0.000177/3 (TOMMO)
G=0.000546/1 (Korea1K)
G=0.006845/20 (KOREAN)
HGVS:: NC_000019.10:g.21537612T>A, NC_000019.10:g.21537612T>G, NC_000019.9:g.21720414T>A, NC_000019.9:g.21720414T>G, NM_001001415.4:c.1559T>A, NM_001001415.4:c.1559T>G, NM_001001415.3:c.1559T>A, NM_001001415.3:c.1559T>G, NM_001001415.2:c.1559T>A, NM_001001415.2:c.1559T>G, XM_017026748.3:c.1604T>A, XM_017026748.3:c.1604T>G, XM_017026748.2:c.1604T>A, XM_017026748.2:c.1604T>G, XM_017026748.1:c.1604T>A, XM_017026748.1:c.1604T>G, NM_001346914.2:c.1463T>A, NM_001346914.2:c.1463T>G, NM_001346914.1:c.1463T>A, NM_001346914.1:c.1463T>G, NM_001346912.2:c.1553T>A, NM_001346912.2:c.1553T>G, NM_001346912.1:c.1553T>A, NM_001346912.1:c.1553T>G, NM_001346913.2:c.1463T>A, NM_001346913.2:c.1463T>G, NM_001346913.1:c.1463T>A, NM_001346913.1:c.1463T>G, NM_001346915.2:c.1463T>A, NM_001346915.2:c.1463T>G, NM_001346915.1:c.1463T>A, NM_001346915.1:c.1463T>G, XM_017026752.2:c.1463T>A, XM_017026752.2:c.1463T>G, XM_017026752.1:c.1463T>A, XM_017026752.1:c.1463T>G, NM_001346916.2:c.1367T>A, NM_001346916.2:c.1367T>G, NM_001346916.1:c.1367T>A, NM_001346916.1:c.1367T>G, XM_047438765.1:c.1604T>A, XM_047438765.1:c.1604T>G, NP_001001415.2:p.Leu520Gln, NP_001001415.2:p.Leu520Arg, XP_016882237.1:p.Leu535Gln, XP_016882237.1:p.Leu535Arg, NP_001333843.1:p.Leu488Gln, NP_001333843.1:p.Leu488Arg, NP_001333841.1:p.Leu518Gln, NP_001333841.1:p.Leu518Arg, NP_001333842.1:p.Leu488Gln, NP_001333842.1:p.Leu488Arg, NP_001333844.1:p.Leu488Gln, NP_001333844.1:p.Leu488Arg, XP_016882241.1:p.Leu488Gln, XP_016882241.1:p.Leu488Arg, NP_001333845.1:p.Leu456Gln, NP_001333845.1:p.Leu456Arg, XP_047294721.1:p.Leu535Gln, XP_047294721.1:p.Leu535Arg

Select item 14829701757.

rs1482970175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:21536943 (GRCh38)
19:21719745 (GRCh37)
Canonical SPDI:: NC_000019.10:21536942:C:A,NC_000019.10:21536942:C:T
Gene:: ZNF429 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21536943C>A, NC_000019.10:g.21536943C>T, NC_000019.9:g.21719745C>A, NC_000019.9:g.21719745C>T, NM_001001415.4:c.890C>A, NM_001001415.4:c.890C>T, NM_001001415.3:c.890C>A, NM_001001415.3:c.890C>T, NM_001001415.2:c.890C>A, NM_001001415.2:c.890C>T, XM_017026748.3:c.935C>A, XM_017026748.3:c.935C>T, XM_017026748.2:c.935C>A, XM_017026748.2:c.935C>T, XM_017026748.1:c.935C>A, XM_017026748.1:c.935C>T, NM_001346914.2:c.794C>A, NM_001346914.2:c.794C>T, NM_001346914.1:c.794C>A, NM_001346914.1:c.794C>T, NM_001346912.2:c.884C>A, NM_001346912.2:c.884C>T, NM_001346912.1:c.884C>A, NM_001346912.1:c.884C>T, NM_001346913.2:c.794C>A, NM_001346913.2:c.794C>T, NM_001346913.1:c.794C>A, NM_001346913.1:c.794C>T, NM_001346915.2:c.794C>A, NM_001346915.2:c.794C>T, NM_001346915.1:c.794C>A, NM_001346915.1:c.794C>T, XM_017026752.2:c.794C>A, XM_017026752.2:c.794C>T, XM_017026752.1:c.794C>A, XM_017026752.1:c.794C>T, NM_001346916.2:c.698C>A, NM_001346916.2:c.698C>T, NM_001346916.1:c.698C>A, NM_001346916.1:c.698C>T, XM_047438765.1:c.935C>A, XM_047438765.1:c.935C>T, NP_001001415.2:p.Ser297Tyr, NP_001001415.2:p.Ser297Phe, XP_016882237.1:p.Ser312Tyr, XP_016882237.1:p.Ser312Phe, NP_001333843.1:p.Ser265Tyr, NP_001333843.1:p.Ser265Phe, NP_001333841.1:p.Ser295Tyr, NP_001333841.1:p.Ser295Phe, NP_001333842.1:p.Ser265Tyr, NP_001333842.1:p.Ser265Phe, NP_001333844.1:p.Ser265Tyr, NP_001333844.1:p.Ser265Phe, XP_016882241.1:p.Ser265Tyr, XP_016882241.1:p.Ser265Phe, NP_001333845.1:p.Ser233Tyr, NP_001333845.1:p.Ser233Phe, XP_047294721.1:p.Ser312Tyr, XP_047294721.1:p.Ser312Phe

Select item 14826829048.

rs1482682904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:21536512 (GRCh38)
19:21719314 (GRCh37)
Canonical SPDI:: NC_000019.10:21536511:C:A
Gene:: ZNF429 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.21536512C>A, NC_000019.9:g.21719314C>A, NM_001001415.4:c.459C>A, NM_001001415.3:c.459C>A, NM_001001415.2:c.459C>A, XM_017026748.3:c.504C>A, XM_017026748.2:c.504C>A, XM_017026748.1:c.504C>A, NM_001346914.2:c.363C>A, NM_001346914.1:c.363C>A, NM_001346912.2:c.453C>A, NM_001346912.1:c.453C>A, NM_001346913.2:c.363C>A, NM_001346913.1:c.363C>A, NM_001346915.2:c.363C>A, NM_001346915.1:c.363C>A, XM_017026752.2:c.363C>A, XM_017026752.1:c.363C>A, NM_001346916.2:c.267C>A, NM_001346916.1:c.267C>A, XM_047438765.1:c.504C>A

Select item 14817054239.

rs1481705423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:21537659 (GRCh38)
19:21720461 (GRCh37)
Canonical SPDI:: NC_000019.10:21537658:C:A
Gene:: ZNF429 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.21537659C>A, NC_000019.9:g.21720461C>A, NM_001001415.4:c.1606C>A, NM_001001415.3:c.1606C>A, NM_001001415.2:c.1606C>A, XM_017026748.3:c.1651C>A, XM_017026748.2:c.1651C>A, XM_017026748.1:c.1651C>A, NM_001346914.2:c.1510C>A, NM_001346914.1:c.1510C>A, NM_001346912.2:c.1600C>A, NM_001346912.1:c.1600C>A, NM_001346913.2:c.1510C>A, NM_001346913.1:c.1510C>A, NM_001346915.2:c.1510C>A, NM_001346915.1:c.1510C>A, XM_017026752.2:c.1510C>A, XM_017026752.1:c.1510C>A, NM_001346916.2:c.1414C>A, NM_001346916.1:c.1414C>A, XM_047438765.1:c.1651C>A, NP_001001415.2:p.Pro536Thr, XP_016882237.1:p.Pro551Thr, NP_001333843.1:p.Pro504Thr, NP_001333841.1:p.Pro534Thr, NP_001333842.1:p.Pro504Thr, NP_001333844.1:p.Pro504Thr, XP_016882241.1:p.Pro504Thr, NP_001333845.1:p.Pro472Thr, XP_047294721.1:p.Pro551Thr

Select item 148160656510.

rs1481606565 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:21536589 (GRCh38)
19:21719391 (GRCh37)
Canonical SPDI:: NC_000019.10:21536588:G:A,NC_000019.10:21536588:G:C
Gene:: ZNF429 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00014/2 (TOMMO)
HGVS:: NC_000019.10:g.21536589G>A, NC_000019.10:g.21536589G>C, NC_000019.9:g.21719391G>A, NC_000019.9:g.21719391G>C, NM_001001415.4:c.536G>A, NM_001001415.4:c.536G>C, NM_001001415.3:c.536G>A, NM_001001415.3:c.536G>C, NM_001001415.2:c.536G>A, NM_001001415.2:c.536G>C, XM_017026748.3:c.581G>A, XM_017026748.3:c.581G>C, XM_017026748.2:c.581G>A, XM_017026748.2:c.581G>C, XM_017026748.1:c.581G>A, XM_017026748.1:c.581G>C, NM_001346914.2:c.440G>A, NM_001346914.2:c.440G>C, NM_001346914.1:c.440G>A, NM_001346914.1:c.440G>C, NM_001346912.2:c.530G>A, NM_001346912.2:c.530G>C, NM_001346912.1:c.530G>A, NM_001346912.1:c.530G>C, NM_001346913.2:c.440G>A, NM_001346913.2:c.440G>C, NM_001346913.1:c.440G>A, NM_001346913.1:c.440G>C, NM_001346915.2:c.440G>A, NM_001346915.2:c.440G>C, NM_001346915.1:c.440G>A, NM_001346915.1:c.440G>C, XM_017026752.2:c.440G>A, XM_017026752.2:c.440G>C, XM_017026752.1:c.440G>A, XM_017026752.1:c.440G>C, NM_001346916.2:c.344G>A, NM_001346916.2:c.344G>C, NM_001346916.1:c.344G>A, NM_001346916.1:c.344G>C, XM_047438765.1:c.581G>A, XM_047438765.1:c.581G>C, NP_001001415.2:p.Gly179Asp, NP_001001415.2:p.Gly179Ala, XP_016882237.1:p.Gly194Asp, XP_016882237.1:p.Gly194Ala, NP_001333843.1:p.Gly147Asp, NP_001333843.1:p.Gly147Ala, NP_001333841.1:p.Gly177Asp, NP_001333841.1:p.Gly177Ala, NP_001333842.1:p.Gly147Asp, NP_001333842.1:p.Gly147Ala, NP_001333844.1:p.Gly147Asp, NP_001333844.1:p.Gly147Ala, XP_016882241.1:p.Gly147Asp, XP_016882241.1:p.Gly147Ala, NP_001333845.1:p.Gly115Asp, NP_001333845.1:p.Gly115Ala, XP_047294721.1:p.Gly194Asp, XP_047294721.1:p.Gly194Ala

Select item 148156131311.

rs1481561313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:21537328 (GRCh38)
19:21720130 (GRCh37)
Canonical SPDI:: NC_000019.10:21537327:C:T
Gene:: ZNF429 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.21537328C>T, NC_000019.9:g.21720130C>T, NM_001001415.4:c.1275C>T, NM_001001415.3:c.1275C>T, NM_001001415.2:c.1275C>T, XM_017026748.3:c.1320C>T, XM_017026748.2:c.1320C>T, XM_017026748.1:c.1320C>T, NM_001346914.2:c.1179C>T, NM_001346914.1:c.1179C>T, NM_001346912.2:c.1269C>T, NM_001346912.1:c.1269C>T, NM_001346913.2:c.1179C>T, NM_001346913.1:c.1179C>T, NM_001346915.2:c.1179C>T, NM_001346915.1:c.1179C>T, XM_017026752.2:c.1179C>T, XM_017026752.1:c.1179C>T, NM_001346916.2:c.1083C>T, NM_001346916.1:c.1083C>T, XM_047438765.1:c.1320C>T

Select item 148053971812.

rs1480539718 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:21537475 (GRCh38)
19:21720277 (GRCh37)
Canonical SPDI:: NC_000019.10:21537474:T:A
Gene:: ZNF429 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.21537475T>A, NC_000019.9:g.21720277T>A, NM_001001415.4:c.1422T>A, NM_001001415.3:c.1422T>A, NM_001001415.2:c.1422T>A, XM_017026748.3:c.1467T>A, XM_017026748.2:c.1467T>A, XM_017026748.1:c.1467T>A, NM_001346914.2:c.1326T>A, NM_001346914.1:c.1326T>A, NM_001346912.2:c.1416T>A, NM_001346912.1:c.1416T>A, NM_001346913.2:c.1326T>A, NM_001346913.1:c.1326T>A, NM_001346915.2:c.1326T>A, NM_001346915.1:c.1326T>A, XM_017026752.2:c.1326T>A, XM_017026752.1:c.1326T>A, NM_001346916.2:c.1230T>A, NM_001346916.1:c.1230T>A, XM_047438765.1:c.1467T>A

Select item 147875857613.

rs1478758576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 19:21537034 (GRCh38)
19:21719836 (GRCh37)
Canonical SPDI:: NC_000019.10:21537033:C:A,NC_000019.10:21537033:C:G,NC_000019.10:21537033:C:T
Gene:: ZNF429 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21537034C>A, NC_000019.10:g.21537034C>G, NC_000019.10:g.21537034C>T, NC_000019.9:g.21719836C>A, NC_000019.9:g.21719836C>G, NC_000019.9:g.21719836C>T, NM_001001415.4:c.981C>A, NM_001001415.4:c.981C>G, NM_001001415.4:c.981C>T, NM_001001415.3:c.981C>A, NM_001001415.3:c.981C>G, NM_001001415.3:c.981C>T, NM_001001415.2:c.981C>A, NM_001001415.2:c.981C>G, NM_001001415.2:c.981C>T, XM_017026748.3:c.1026C>A, XM_017026748.3:c.1026C>G, XM_017026748.3:c.1026C>T, XM_017026748.2:c.1026C>A, XM_017026748.2:c.1026C>G, XM_017026748.2:c.1026C>T, XM_017026748.1:c.1026C>A, XM_017026748.1:c.1026C>G, XM_017026748.1:c.1026C>T, NM_001346914.2:c.885C>A, NM_001346914.2:c.885C>G, NM_001346914.2:c.885C>T, NM_001346914.1:c.885C>A, NM_001346914.1:c.885C>G, NM_001346914.1:c.885C>T, NM_001346912.2:c.975C>A, NM_001346912.2:c.975C>G, NM_001346912.2:c.975C>T, NM_001346912.1:c.975C>A, NM_001346912.1:c.975C>G, NM_001346912.1:c.975C>T, NM_001346913.2:c.885C>A, NM_001346913.2:c.885C>G, NM_001346913.2:c.885C>T, NM_001346913.1:c.885C>A, NM_001346913.1:c.885C>G, NM_001346913.1:c.885C>T, NM_001346915.2:c.885C>A, NM_001346915.2:c.885C>G, NM_001346915.2:c.885C>T, NM_001346915.1:c.885C>A, NM_001346915.1:c.885C>G, NM_001346915.1:c.885C>T, XM_017026752.2:c.885C>A, XM_017026752.2:c.885C>G, XM_017026752.2:c.885C>T, XM_017026752.1:c.885C>A, XM_017026752.1:c.885C>G, XM_017026752.1:c.885C>T, NM_001346916.2:c.789C>A, NM_001346916.2:c.789C>G, NM_001346916.2:c.789C>T, NM_001346916.1:c.789C>A, NM_001346916.1:c.789C>G, NM_001346916.1:c.789C>T, XM_047438765.1:c.1026C>A, XM_047438765.1:c.1026C>G, XM_047438765.1:c.1026C>T

Select item 147742912514.

rs1477429125 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:21537415 (GRCh38)
19:21720217 (GRCh37)
Canonical SPDI:: NC_000019.10:21537414:A:G
Gene:: ZNF429 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.21537415A>G, NC_000019.9:g.21720217A>G, NM_001001415.4:c.1362A>G, NM_001001415.3:c.1362A>G, NM_001001415.2:c.1362A>G, XM_017026748.3:c.1407A>G, XM_017026748.2:c.1407A>G, XM_017026748.1:c.1407A>G, NM_001346914.2:c.1266A>G, NM_001346914.1:c.1266A>G, NM_001346912.2:c.1356A>G, NM_001346912.1:c.1356A>G, NM_001346913.2:c.1266A>G, NM_001346913.1:c.1266A>G, NM_001346915.2:c.1266A>G, NM_001346915.1:c.1266A>G, XM_017026752.2:c.1266A>G, XM_017026752.1:c.1266A>G, NM_001346916.2:c.1170A>G, NM_001346916.1:c.1170A>G, XM_047438765.1:c.1407A>G

Select item 147700494715.

rs1477004947 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:21537962 (GRCh38)
19:21720764 (GRCh37)
Canonical SPDI:: NC_000019.10:21537961:A:C
Gene:: ZNF429 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.21537962A>C, NC_000019.9:g.21720764A>C, NM_001001415.4:c.1909A>C, NM_001001415.3:c.1909A>C, NM_001001415.2:c.1909A>C, XM_017026748.3:c.1954A>C, XM_017026748.2:c.1954A>C, XM_017026748.1:c.1954A>C, NM_001346914.2:c.1813A>C, NM_001346914.1:c.1813A>C, NM_001346912.2:c.1903A>C, NM_001346912.1:c.1903A>C, NM_001346913.2:c.1813A>C, NM_001346913.1:c.1813A>C, NM_001346915.2:c.1813A>C, NM_001346915.1:c.1813A>C, XM_017026752.2:c.1813A>C, XM_017026752.1:c.1813A>C, NM_001346916.2:c.1717A>C, NM_001346916.1:c.1717A>C, XM_047438765.1:c.1954A>C, NP_001001415.2:p.Thr637Pro, XP_016882237.1:p.Thr652Pro, NP_001333843.1:p.Thr605Pro, NP_001333841.1:p.Thr635Pro, NP_001333842.1:p.Thr605Pro, NP_001333844.1:p.Thr605Pro, XP_016882241.1:p.Thr605Pro, NP_001333845.1:p.Thr573Pro, XP_047294721.1:p.Thr652Pro

Select item 147547734716.

rs1475477347 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 19:21537189 (GRCh38)
19:21719991 (GRCh37)
Canonical SPDI:: NC_000019.10:21537188:A:C,NC_000019.10:21537188:A:T
Gene:: ZNF429 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.21537189A>C, NC_000019.10:g.21537189A>T, NC_000019.9:g.21719991A>C, NC_000019.9:g.21719991A>T, NM_001001415.4:c.1136A>C, NM_001001415.4:c.1136A>T, NM_001001415.3:c.1136A>C, NM_001001415.3:c.1136A>T, NM_001001415.2:c.1136A>C, NM_001001415.2:c.1136A>T, XM_017026748.3:c.1181A>C, XM_017026748.3:c.1181A>T, XM_017026748.2:c.1181A>C, XM_017026748.2:c.1181A>T, XM_017026748.1:c.1181A>C, XM_017026748.1:c.1181A>T, NM_001346914.2:c.1040A>C, NM_001346914.2:c.1040A>T, NM_001346914.1:c.1040A>C, NM_001346914.1:c.1040A>T, NM_001346912.2:c.1130A>C, NM_001346912.2:c.1130A>T, NM_001346912.1:c.1130A>C, NM_001346912.1:c.1130A>T, NM_001346913.2:c.1040A>C, NM_001346913.2:c.1040A>T, NM_001346913.1:c.1040A>C, NM_001346913.1:c.1040A>T, NM_001346915.2:c.1040A>C, NM_001346915.2:c.1040A>T, NM_001346915.1:c.1040A>C, NM_001346915.1:c.1040A>T, XM_017026752.2:c.1040A>C, XM_017026752.2:c.1040A>T, XM_017026752.1:c.1040A>C, XM_017026752.1:c.1040A>T, NM_001346916.2:c.944A>C, NM_001346916.2:c.944A>T, NM_001346916.1:c.944A>C, NM_001346916.1:c.944A>T, XM_047438765.1:c.1181A>C, XM_047438765.1:c.1181A>T, NP_001001415.2:p.Asn379Thr, NP_001001415.2:p.Asn379Ile, XP_016882237.1:p.Asn394Thr, XP_016882237.1:p.Asn394Ile, NP_001333843.1:p.Asn347Thr, NP_001333843.1:p.Asn347Ile, NP_001333841.1:p.Asn377Thr, NP_001333841.1:p.Asn377Ile, NP_001333842.1:p.Asn347Thr, NP_001333842.1:p.Asn347Ile, NP_001333844.1:p.Asn347Thr, NP_001333844.1:p.Asn347Ile, XP_016882241.1:p.Asn347Thr, XP_016882241.1:p.Asn347Ile, NP_001333845.1:p.Asn315Thr, NP_001333845.1:p.Asn315Ile, XP_047294721.1:p.Asn394Thr, XP_047294721.1:p.Asn394Ile

Select item 147459751617.

rs1474597516 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:21536914 (GRCh38)
19:21719716 (GRCh37)
Canonical SPDI:: NC_000019.10:21536913:T:C
Gene:: ZNF429 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.21536914T>C, NC_000019.9:g.21719716T>C, NM_001001415.4:c.861T>C, NM_001001415.3:c.861T>C, NM_001001415.2:c.861T>C, XM_017026748.3:c.906T>C, XM_017026748.2:c.906T>C, XM_017026748.1:c.906T>C, NM_001346914.2:c.765T>C, NM_001346914.1:c.765T>C, NM_001346912.2:c.855T>C, NM_001346912.1:c.855T>C, NM_001346913.2:c.765T>C, NM_001346913.1:c.765T>C, NM_001346915.2:c.765T>C, NM_001346915.1:c.765T>C, XM_017026752.2:c.765T>C, XM_017026752.1:c.765T>C, NM_001346916.2:c.669T>C, NM_001346916.1:c.669T>C, XM_047438765.1:c.906T>C

Select item 147294307618.

rs1472943076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:21537945 (GRCh38)
19:21720747 (GRCh37)
Canonical SPDI:: NC_000019.10:21537944:C:A
Gene:: ZNF429 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.21537945C>A, NC_000019.9:g.21720747C>A, NM_001001415.4:c.1892C>A, NM_001001415.3:c.1892C>A, NM_001001415.2:c.1892C>A, XM_017026748.3:c.1937C>A, XM_017026748.2:c.1937C>A, XM_017026748.1:c.1937C>A, NM_001346914.2:c.1796C>A, NM_001346914.1:c.1796C>A, NM_001346912.2:c.1886C>A, NM_001346912.1:c.1886C>A, NM_001346913.2:c.1796C>A, NM_001346913.1:c.1796C>A, NM_001346915.2:c.1796C>A, NM_001346915.1:c.1796C>A, XM_017026752.2:c.1796C>A, XM_017026752.1:c.1796C>A, NM_001346916.2:c.1700C>A, NM_001346916.1:c.1700C>A, XM_047438765.1:c.1937C>A, NP_001001415.2:p.Thr631Asn, XP_016882237.1:p.Thr646Asn, NP_001333843.1:p.Thr599Asn, NP_001333841.1:p.Thr629Asn, NP_001333842.1:p.Thr599Asn, NP_001333844.1:p.Thr599Asn, XP_016882241.1:p.Thr599Asn, NP_001333845.1:p.Thr567Asn, XP_047294721.1:p.Thr646Asn

Select item 147253584019.

rs1472535840 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:21536873 (GRCh38)
19:21719675 (GRCh37)
Canonical SPDI:: NC_000019.10:21536872:A:G
Gene:: ZNF429 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21536873A>G, NC_000019.9:g.21719675A>G, NM_001001415.4:c.820A>G, NM_001001415.3:c.820A>G, NM_001001415.2:c.820A>G, XM_017026748.3:c.865A>G, XM_017026748.2:c.865A>G, XM_017026748.1:c.865A>G, NM_001346914.2:c.724A>G, NM_001346914.1:c.724A>G, NM_001346912.2:c.814A>G, NM_001346912.1:c.814A>G, NM_001346913.2:c.724A>G, NM_001346913.1:c.724A>G, NM_001346915.2:c.724A>G, NM_001346915.1:c.724A>G, XM_017026752.2:c.724A>G, XM_017026752.1:c.724A>G, NM_001346916.2:c.628A>G, NM_001346916.1:c.628A>G, XM_047438765.1:c.865A>G, NP_001001415.2:p.Thr274Ala, XP_016882237.1:p.Thr289Ala, NP_001333843.1:p.Thr242Ala, NP_001333841.1:p.Thr272Ala, NP_001333842.1:p.Thr242Ala, NP_001333844.1:p.Thr242Ala, XP_016882241.1:p.Thr242Ala, NP_001333845.1:p.Thr210Ala, XP_047294721.1:p.Thr289Ala

Select item 147163002820.

rs1471630028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:21537254 (GRCh38)
19:21720056 (GRCh37)
Canonical SPDI:: NC_000019.10:21537253:A:G
Gene:: ZNF429 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21537254A>G, NC_000019.9:g.21720056A>G, NM_001001415.4:c.1201A>G, NM_001001415.3:c.1201A>G, NM_001001415.2:c.1201A>G, XM_017026748.3:c.1246A>G, XM_017026748.2:c.1246A>G, XM_017026748.1:c.1246A>G, NM_001346914.2:c.1105A>G, NM_001346914.1:c.1105A>G, NM_001346912.2:c.1195A>G, NM_001346912.1:c.1195A>G, NM_001346913.2:c.1105A>G, NM_001346913.1:c.1105A>G, NM_001346915.2:c.1105A>G, NM_001346915.1:c.1105A>G, XM_017026752.2:c.1105A>G, XM_017026752.1:c.1105A>G, NM_001346916.2:c.1009A>G, NM_001346916.1:c.1009A>G, XM_047438765.1:c.1246A>G, NP_001001415.2:p.Lys401Glu, XP_016882237.1:p.Lys416Glu, NP_001333843.1:p.Lys369Glu, NP_001333841.1:p.Lys399Glu, NP_001333842.1:p.Lys369Glu, NP_001333844.1:p.Lys369Glu, XP_016882241.1:p.Lys369Glu, NP_001333845.1:p.Lys337Glu, XP_047294721.1:p.Lys416Glu

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