SNP Links for Protein (Select 619328927) - SNP

Select item 14826497941.

rs1482649794 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:57492188 (GRCh38)
19:58003556 (GRCh37)
Canonical SPDI:: NC_000019.10:57492187:T:C
Gene:: ZNF419 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57492188T>C, NC_000019.9:g.58003556T>C, NG_054882.1:g.9478T>C, NM_024691.4:c.275T>C, NM_024691.3:c.275T>C, NM_001098491.2:c.278T>C, NM_001098491.1:c.278T>C, NM_001098492.2:c.239T>C, NM_001098492.1:c.239T>C, NM_001098493.2:c.236T>C, NM_001098493.1:c.236T>C, NM_001291745.2:c.239T>C, NM_001291745.1:c.239T>C, NP_078967.3:p.Val92Ala, NP_001091961.1:p.Val93Ala, NP_001091962.1:p.Val80Ala, NP_001091963.1:p.Val79Ala, NP_001278674.1:p.Val80Ala

Select item 14750254702.

rs1475025470 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:57494424 (GRCh38)
19:58005792 (GRCh37)
Canonical SPDI:: NC_000019.10:57494423:T:A
Gene:: ZNF419 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57494424T>A, NC_000019.9:g.58005792T>A, NG_054882.1:g.11714T>A, NM_024691.4:c.*334T>A, NM_024691.3:c.*334T>A, NM_001098491.2:c.*334T>A, NM_001098491.1:c.*334T>A, NM_001098492.2:c.*334T>A, NM_001098492.1:c.*334T>A, NM_001098493.2:c.*334T>A, NM_001098493.1:c.*334T>A, NM_001291744.2:c.*334T>A, NM_001291744.1:c.*334T>A, NM_001098494.2:c.*334T>A, NM_001098494.1:c.*334T>A, NM_001291743.2:c.*334T>A, NM_001291743.1:c.*334T>A, NM_001098495.2:c.*334T>A, NM_001098495.1:c.*334T>A, NM_001098496.2:c.*334T>A, NM_001098496.1:c.*334T>A, NM_001291745.2:c.319T>A, NM_001291745.1:c.319T>A, NP_001278674.1:p.Tyr107Asn

Select item 14616139553.

rs1461613955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:57487956 (GRCh38)
19:57999324 (GRCh37)
Canonical SPDI:: NC_000019.10:57487955:G:C
Gene:: ZNF419 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57487956G>C, NC_000019.9:g.57999324G>C, NG_054882.1:g.5246G>C, NM_024691.4:c.6G>C, NM_024691.3:c.6G>C, NM_001098491.2:c.6G>C, NM_001098491.1:c.6G>C, NM_001098492.2:c.6G>C, NM_001098492.1:c.6G>C, NM_001098493.2:c.6G>C, NM_001098493.1:c.6G>C, NM_001291744.2:c.-179G>C, NM_001291744.1:c.-179G>C, NM_001098494.2:c.6G>C, NM_001098494.1:c.6G>C, NM_001291743.2:c.6G>C, NM_001291743.1:c.6G>C, NM_001098495.2:c.6G>C, NM_001098495.1:c.6G>C, NM_001098496.2:c.6G>C, NM_001098496.1:c.6G>C, NM_001291745.2:c.6G>C, NM_001291745.1:c.6G>C

Select item 14498820144.

rs1449882014 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAGATGAG>- [Show Flanks]
Chromosome:: 19:57494439 (GRCh38)
19:58005807 (GRCh37)
Canonical SPDI:: NC_000019.10:57494437:GCAAGATGAG:G
Gene:: ZNF419 (Varview)
Functional Consequence:: inframe_deletion,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.57494439_57494447del, NC_000019.9:g.58005807_58005815del, NG_054882.1:g.11729_11737del, NM_024691.4:c.*349_*357del, NM_024691.3:c.*349_*357del, NM_001098491.2:c.*349_*357del, NM_001098491.1:c.*349_*357del, NM_001098492.2:c.*349_*357del, NM_001098492.1:c.*349_*357del, NM_001098493.2:c.*349_*357del, NM_001098493.1:c.*349_*357del, NM_001291744.2:c.*349_*357del, NM_001291744.1:c.*349_*357del, NM_001098494.2:c.*349_*357del, NM_001098494.1:c.*349_*357del, NM_001291743.2:c.*349_*357del, NM_001291743.1:c.*349_*357del, NM_001098495.2:c.*349_*357del, NM_001098495.1:c.*349_*357del, NM_001098496.2:c.*349_*357del, NM_001098496.1:c.*349_*357del, NM_001291745.2:c.334_342del, NM_001291745.1:c.334_342del, NP_001278674.1:p.Gln112_Glu114del

Select item 14491276505.

rs1449127650 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:57492158 (GRCh38)
19:58003526 (GRCh37)
Canonical SPDI:: NC_000019.10:57492157:GGG:GG
Gene:: ZNF419 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57492160del, NC_000019.9:g.58003528del, NG_054882.1:g.9450del, NM_024691.4:c.247del, NM_024691.3:c.247del, NM_001098491.2:c.250del, NM_001098491.1:c.250del, NM_001098492.2:c.211del, NM_001098492.1:c.211del, NM_001098493.2:c.208del, NM_001098493.1:c.208del, NM_001291745.2:c.211del, NM_001291745.1:c.211del, NP_078967.3:p.Glu83fs, NP_001091961.1:p.Glu84fs, NP_001091962.1:p.Glu71fs, NP_001091963.1:p.Glu70fs, NP_001278674.1:p.Glu71fs

Select item 14384072346.

rs1438407234 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:57491560 (GRCh38)
19:58002928 (GRCh37)
Canonical SPDI:: NC_000019.10:57491559:T:G
Gene:: ZNF419 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57491560T>G, NC_000019.9:g.58002928T>G, NG_054882.1:g.8850T>G, NM_024691.4:c.162T>G, NM_024691.3:c.162T>G, NM_001098491.2:c.165T>G, NM_001098491.1:c.165T>G, NM_001098492.2:c.126T>G, NM_001098492.1:c.126T>G, NM_001098493.2:c.123T>G, NM_001098493.1:c.123T>G, NM_001291744.2:c.-4T>G, NM_001291744.1:c.-4T>G, NM_001098494.2:c.165T>G, NM_001098494.1:c.165T>G, NM_001291743.2:c.162T>G, NM_001291743.1:c.162T>G, NM_001098495.2:c.126T>G, NM_001098495.1:c.126T>G, NM_001098496.2:c.123T>G, NM_001098496.1:c.123T>G, NM_001291745.2:c.126T>G, NM_001291745.1:c.126T>G, NP_078967.3:p.Asn54Lys, NP_001091961.1:p.Asn55Lys, NP_001091962.1:p.Asn42Lys, NP_001091963.1:p.Asn41Lys, NP_001091964.1:p.Asn55Lys, NP_001278672.1:p.Asn54Lys, NP_001091965.1:p.Asn42Lys, NP_001091966.1:p.Asn41Lys, NP_001278674.1:p.Asn42Lys

Select item 14355310257.

rs1435531025 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57492202 (GRCh38)
19:58003570 (GRCh37)
Canonical SPDI:: NC_000019.10:57492201:A:G
Gene:: ZNF419 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57492202A>G, NC_000019.9:g.58003570A>G, NG_054882.1:g.9492A>G, NM_024691.4:c.289A>G, NM_024691.3:c.289A>G, NM_001098491.2:c.292A>G, NM_001098491.1:c.292A>G, NM_001098492.2:c.253A>G, NM_001098492.1:c.253A>G, NM_001098493.2:c.250A>G, NM_001098493.1:c.250A>G, NM_001291745.2:c.253A>G, NM_001291745.1:c.253A>G, NP_078967.3:p.Ile97Val, NP_001091961.1:p.Ile98Val, NP_001091962.1:p.Ile85Val, NP_001091963.1:p.Ile84Val, NP_001278674.1:p.Ile85Val

Select item 14347144948.

rs1434714494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:57491545 (GRCh38)
19:58002913 (GRCh37)
Canonical SPDI:: NC_000019.10:57491544:G:A,NC_000019.10:57491544:G:T
Gene:: ZNF419 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.57491545G>A, NC_000019.10:g.57491545G>T, NC_000019.9:g.58002913G>A, NC_000019.9:g.58002913G>T, NG_054882.1:g.8835G>A, NG_054882.1:g.8835G>T, NM_024691.4:c.147G>A, NM_024691.4:c.147G>T, NM_024691.3:c.147G>A, NM_024691.3:c.147G>T, NM_001098491.2:c.150G>A, NM_001098491.2:c.150G>T, NM_001098491.1:c.150G>A, NM_001098491.1:c.150G>T, NM_001098492.2:c.111G>A, NM_001098492.2:c.111G>T, NM_001098492.1:c.111G>A, NM_001098492.1:c.111G>T, NM_001098493.2:c.108G>A, NM_001098493.2:c.108G>T, NM_001098493.1:c.108G>A, NM_001098493.1:c.108G>T, NM_001291744.2:c.-19G>A, NM_001291744.2:c.-19G>T, NM_001291744.1:c.-19G>A, NM_001291744.1:c.-19G>T, NM_001098494.2:c.150G>A, NM_001098494.2:c.150G>T, NM_001098494.1:c.150G>A, NM_001098494.1:c.150G>T, NM_001291743.2:c.147G>A, NM_001291743.2:c.147G>T, NM_001291743.1:c.147G>A, NM_001291743.1:c.147G>T, NM_001098495.2:c.111G>A, NM_001098495.2:c.111G>T, NM_001098495.1:c.111G>A, NM_001098495.1:c.111G>T, NM_001098496.2:c.108G>A, NM_001098496.2:c.108G>T, NM_001098496.1:c.108G>A, NM_001098496.1:c.108G>T, NM_001291745.2:c.111G>A, NM_001291745.2:c.111G>T, NM_001291745.1:c.111G>A, NM_001291745.1:c.111G>T, NP_078967.3:p.Arg49Ser, NP_001091961.1:p.Arg50Ser, NP_001091962.1:p.Arg37Ser, NP_001091963.1:p.Arg36Ser, NP_001091964.1:p.Arg50Ser, NP_001278672.1:p.Arg49Ser, NP_001091965.1:p.Arg37Ser, NP_001091966.1:p.Arg36Ser, NP_001278674.1:p.Arg37Ser

Select item 14305778809.

rs1430577880 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:57494398 (GRCh38)
19:58005766 (GRCh37)
Canonical SPDI:: NC_000019.10:57494397:T:C
Gene:: ZNF419 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.57494398T>C, NC_000019.9:g.58005766T>C, NG_054882.1:g.11688T>C, NM_024691.4:c.*308T>C, NM_024691.3:c.*308T>C, NM_001098491.2:c.*308T>C, NM_001098491.1:c.*308T>C, NM_001098492.2:c.*308T>C, NM_001098492.1:c.*308T>C, NM_001098493.2:c.*308T>C, NM_001098493.1:c.*308T>C, NM_001291744.2:c.*308T>C, NM_001291744.1:c.*308T>C, NM_001098494.2:c.*308T>C, NM_001098494.1:c.*308T>C, NM_001291743.2:c.*308T>C, NM_001291743.1:c.*308T>C, NM_001098495.2:c.*308T>C, NM_001098495.1:c.*308T>C, NM_001098496.2:c.*308T>C, NM_001098496.1:c.*308T>C, NM_001291745.2:c.293T>C, NM_001291745.1:c.293T>C, NP_001278674.1:p.Leu98Pro

Select item 142507054510.

rs1425070545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:57494409 (GRCh38)
19:58005777 (GRCh37)
Canonical SPDI:: NC_000019.10:57494408:C:G
Gene:: ZNF419 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57494409C>G, NC_000019.9:g.58005777C>G, NG_054882.1:g.11699C>G, NM_024691.4:c.*319C>G, NM_024691.3:c.*319C>G, NM_001098491.2:c.*319C>G, NM_001098491.1:c.*319C>G, NM_001098492.2:c.*319C>G, NM_001098492.1:c.*319C>G, NM_001098493.2:c.*319C>G, NM_001098493.1:c.*319C>G, NM_001291744.2:c.*319C>G, NM_001291744.1:c.*319C>G, NM_001098494.2:c.*319C>G, NM_001098494.1:c.*319C>G, NM_001291743.2:c.*319C>G, NM_001291743.1:c.*319C>G, NM_001098495.2:c.*319C>G, NM_001098495.1:c.*319C>G, NM_001098496.2:c.*319C>G, NM_001098496.1:c.*319C>G, NM_001291745.2:c.304C>G, NM_001291745.1:c.304C>G, NP_001278674.1:p.His102Asp

Select item 141930961011.

rs1419309610 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:57491475 (GRCh38)
19:58002843 (GRCh37)
Canonical SPDI:: NC_000019.10:57491474:A:T
Gene:: ZNF419 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57491475A>T, NC_000019.9:g.58002843A>T, NG_054882.1:g.8765A>T, NM_024691.4:c.77A>T, NM_024691.3:c.77A>T, NM_001098491.2:c.80A>T, NM_001098491.1:c.80A>T, NM_001098492.2:c.41A>T, NM_001098492.1:c.41A>T, NM_001098493.2:c.38A>T, NM_001098493.1:c.38A>T, NM_001291744.2:c.-89A>T, NM_001291744.1:c.-89A>T, NM_001098494.2:c.80A>T, NM_001098494.1:c.80A>T, NM_001291743.2:c.77A>T, NM_001291743.1:c.77A>T, NM_001098495.2:c.41A>T, NM_001098495.1:c.41A>T, NM_001098496.2:c.38A>T, NM_001098496.1:c.38A>T, NM_001291745.2:c.41A>T, NM_001291745.1:c.41A>T, NP_078967.3:p.Tyr26Phe, NP_001091961.1:p.Tyr27Phe, NP_001091962.1:p.Tyr14Phe, NP_001091963.1:p.Tyr13Phe, NP_001091964.1:p.Tyr27Phe, NP_001278672.1:p.Tyr26Phe, NP_001091965.1:p.Tyr14Phe, NP_001091966.1:p.Tyr13Phe, NP_001278674.1:p.Tyr14Phe

Select item 141547628412.

rs1415476284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57492166 (GRCh38)
19:58003534 (GRCh37)
Canonical SPDI:: NC_000019.10:57492165:C:T
Gene:: ZNF419 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000318/5 (TOMMO)
HGVS:: NC_000019.10:g.57492166C>T, NC_000019.9:g.58003534C>T, NG_054882.1:g.9456C>T, NM_024691.4:c.253C>T, NM_024691.3:c.253C>T, NM_001098491.2:c.256C>T, NM_001098491.1:c.256C>T, NM_001098492.2:c.217C>T, NM_001098492.1:c.217C>T, NM_001098493.2:c.214C>T, NM_001098493.1:c.214C>T, NM_001291745.2:c.217C>T, NM_001291745.1:c.217C>T, NP_078967.3:p.Pro85Ser, NP_001091961.1:p.Pro86Ser, NP_001091962.1:p.Pro73Ser, NP_001091963.1:p.Pro72Ser, NP_001278674.1:p.Pro73Ser

Select item 140772474913.

rs1407724749 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:57494373 (GRCh38)
19:58005741 (GRCh37)
Canonical SPDI:: NC_000019.10:57494370:CTCT:CT
Gene:: ZNF419 (Varview)
Functional Consequence:: 3_prime_UTR_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57494371CT[1], NC_000019.9:g.58005739CT[1], NG_054882.1:g.11661CT[1], NM_024691.4:c.*281CT[1], NM_024691.3:c.*281CT[1], NM_001098491.2:c.*281CT[1], NM_001098491.1:c.*281CT[1], NM_001098492.2:c.*281CT[1], NM_001098492.1:c.*281CT[1], NM_001098493.2:c.*281CT[1], NM_001098493.1:c.*281CT[1], NM_001291744.2:c.*281CT[1], NM_001291744.1:c.*281CT[1], NM_001098494.2:c.*281CT[1], NM_001098494.1:c.*281CT[1], NM_001291743.2:c.*281CT[1], NM_001291743.1:c.*281CT[1], NM_001098495.2:c.*281CT[1], NM_001098495.1:c.*281CT[1], NM_001098496.2:c.*281CT[1], NM_001098496.1:c.*281CT[1], NM_001291745.2:c.268_269del, NM_001291745.1:c.268_269del, NP_001278674.1:p.Leu90fs

Select item 140215011914.

rs1402150119 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57494403 (GRCh38)
19:58005771 (GRCh37)
Canonical SPDI:: NC_000019.10:57494402:A:G
Gene:: ZNF419 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.57494403A>G, NC_000019.9:g.58005771A>G, NG_054882.1:g.11693A>G, NM_024691.4:c.*313A>G, NM_024691.3:c.*313A>G, NM_001098491.2:c.*313A>G, NM_001098491.1:c.*313A>G, NM_001098492.2:c.*313A>G, NM_001098492.1:c.*313A>G, NM_001098493.2:c.*313A>G, NM_001098493.1:c.*313A>G, NM_001291744.2:c.*313A>G, NM_001291744.1:c.*313A>G, NM_001098494.2:c.*313A>G, NM_001098494.1:c.*313A>G, NM_001291743.2:c.*313A>G, NM_001291743.1:c.*313A>G, NM_001098495.2:c.*313A>G, NM_001098495.1:c.*313A>G, NM_001098496.2:c.*313A>G, NM_001098496.1:c.*313A>G, NM_001291745.2:c.298A>G, NM_001291745.1:c.298A>G, NP_001278674.1:p.Ile100Val

Select item 140027219515.

rs1400272195 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:57491557 (GRCh38)
19:58002925 (GRCh37)
Canonical SPDI:: NC_000019.10:57491556:C:A,NC_000019.10:57491556:C:T
Gene:: ZNF419 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57491557C>A, NC_000019.10:g.57491557C>T, NC_000019.9:g.58002925C>A, NC_000019.9:g.58002925C>T, NG_054882.1:g.8847C>A, NG_054882.1:g.8847C>T, NM_024691.4:c.159C>A, NM_024691.4:c.159C>T, NM_024691.3:c.159C>A, NM_024691.3:c.159C>T, NM_001098491.2:c.162C>A, NM_001098491.2:c.162C>T, NM_001098491.1:c.162C>A, NM_001098491.1:c.162C>T, NM_001098492.2:c.123C>A, NM_001098492.2:c.123C>T, NM_001098492.1:c.123C>A, NM_001098492.1:c.123C>T, NM_001098493.2:c.120C>A, NM_001098493.2:c.120C>T, NM_001098493.1:c.120C>A, NM_001098493.1:c.120C>T, NM_001291744.2:c.-7C>A, NM_001291744.2:c.-7C>T, NM_001291744.1:c.-7C>A, NM_001291744.1:c.-7C>T, NM_001098494.2:c.162C>A, NM_001098494.2:c.162C>T, NM_001098494.1:c.162C>A, NM_001098494.1:c.162C>T, NM_001291743.2:c.159C>A, NM_001291743.2:c.159C>T, NM_001291743.1:c.159C>A, NM_001291743.1:c.159C>T, NM_001098495.2:c.123C>A, NM_001098495.2:c.123C>T, NM_001098495.1:c.123C>A, NM_001098495.1:c.123C>T, NM_001098496.2:c.120C>A, NM_001098496.2:c.120C>T, NM_001098496.1:c.120C>A, NM_001098496.1:c.120C>T, NM_001291745.2:c.123C>A, NM_001291745.2:c.123C>T, NM_001291745.1:c.123C>A, NM_001291745.1:c.123C>T

Select item 139721031816.

rs1397210318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:57491472 (GRCh38)
19:58002840 (GRCh37)
Canonical SPDI:: NC_000019.10:57491471:G:A,NC_000019.10:57491471:G:T
Gene:: ZNF419 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57491472G>A, NC_000019.10:g.57491472G>T, NC_000019.9:g.58002840G>A, NC_000019.9:g.58002840G>T, NG_054882.1:g.8762G>A, NG_054882.1:g.8762G>T, NM_024691.4:c.74G>A, NM_024691.4:c.74G>T, NM_024691.3:c.74G>A, NM_024691.3:c.74G>T, NM_001098491.2:c.77G>A, NM_001098491.2:c.77G>T, NM_001098491.1:c.77G>A, NM_001098491.1:c.77G>T, NM_001098492.2:c.38G>A, NM_001098492.2:c.38G>T, NM_001098492.1:c.38G>A, NM_001098492.1:c.38G>T, NM_001098493.2:c.35G>A, NM_001098493.2:c.35G>T, NM_001098493.1:c.35G>A, NM_001098493.1:c.35G>T, NM_001291744.2:c.-92G>A, NM_001291744.2:c.-92G>T, NM_001291744.1:c.-92G>A, NM_001291744.1:c.-92G>T, NM_001098494.2:c.77G>A, NM_001098494.2:c.77G>T, NM_001098494.1:c.77G>A, NM_001098494.1:c.77G>T, NM_001291743.2:c.74G>A, NM_001291743.2:c.74G>T, NM_001291743.1:c.74G>A, NM_001291743.1:c.74G>T, NM_001098495.2:c.38G>A, NM_001098495.2:c.38G>T, NM_001098495.1:c.38G>A, NM_001098495.1:c.38G>T, NM_001098496.2:c.35G>A, NM_001098496.2:c.35G>T, NM_001098496.1:c.35G>A, NM_001098496.1:c.35G>T, NM_001291745.2:c.38G>A, NM_001291745.2:c.38G>T, NM_001291745.1:c.38G>A, NM_001291745.1:c.38G>T, NP_078967.3:p.Gly25Asp, NP_078967.3:p.Gly25Val, NP_001091961.1:p.Gly26Asp, NP_001091961.1:p.Gly26Val, NP_001091962.1:p.Gly13Asp, NP_001091962.1:p.Gly13Val, NP_001091963.1:p.Gly12Asp, NP_001091963.1:p.Gly12Val, NP_001091964.1:p.Gly26Asp, NP_001091964.1:p.Gly26Val, NP_001278672.1:p.Gly25Asp, NP_001278672.1:p.Gly25Val, NP_001091965.1:p.Gly13Asp, NP_001091965.1:p.Gly13Val, NP_001091966.1:p.Gly12Asp, NP_001091966.1:p.Gly12Val, NP_001278674.1:p.Gly13Asp, NP_001278674.1:p.Gly13Val

Select item 139049245917.

rs1390492459 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:57492204 (GRCh38)
19:58003572 (GRCh37)
Canonical SPDI:: NC_000019.10:57492203:A:C
Gene:: ZNF419 (Varview)
Functional Consequence:: intron_variant,synonymous_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.57492204A>C, NC_000019.9:g.58003572A>C, NG_054882.1:g.9494A>C, NM_024691.4:c.291A>C, NM_024691.3:c.291A>C, NM_001098491.2:c.294A>C, NM_001098491.1:c.294A>C, NM_001098492.2:c.255A>C, NM_001098492.1:c.255A>C, NM_001098493.2:c.252A>C, NM_001098493.1:c.252A>C, NM_001291745.2:c.255A>C, NM_001291745.1:c.255A>C

Select item 137417636018.

rs1374176360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57491486 (GRCh38)
19:58002854 (GRCh37)
Canonical SPDI:: NC_000019.10:57491485:G:A
Gene:: ZNF419 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.57491486G>A, NC_000019.9:g.58002854G>A, NG_054882.1:g.8776G>A, NM_024691.4:c.88G>A, NM_024691.3:c.88G>A, NM_001098491.2:c.91G>A, NM_001098491.1:c.91G>A, NM_001098492.2:c.52G>A, NM_001098492.1:c.52G>A, NM_001098493.2:c.49G>A, NM_001098493.1:c.49G>A, NM_001291744.2:c.-78G>A, NM_001291744.1:c.-78G>A, NM_001098494.2:c.91G>A, NM_001098494.1:c.91G>A, NM_001291743.2:c.88G>A, NM_001291743.1:c.88G>A, NM_001098495.2:c.52G>A, NM_001098495.1:c.52G>A, NM_001098496.2:c.49G>A, NM_001098496.1:c.49G>A, NM_001291745.2:c.52G>A, NM_001291745.1:c.52G>A, NP_078967.3:p.Glu30Lys, NP_001091961.1:p.Glu31Lys, NP_001091962.1:p.Glu18Lys, NP_001091963.1:p.Glu17Lys, NP_001091964.1:p.Glu31Lys, NP_001278672.1:p.Glu30Lys, NP_001091965.1:p.Glu18Lys, NP_001091966.1:p.Glu17Lys, NP_001278674.1:p.Glu18Lys

Select item 137318587919.

rs1373185879 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:57492166 (GRCh38)
19:58003534 (GRCh37)
Canonical SPDI:: NC_000019.10:57492165:CCC:CC
Gene:: ZNF419 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57492168del, NC_000019.9:g.58003536del, NG_054882.1:g.9458del, NM_024691.4:c.255del, NM_024691.3:c.255del, NM_001098491.2:c.258del, NM_001098491.1:c.258del, NM_001098492.2:c.219del, NM_001098492.1:c.219del, NM_001098493.2:c.216del, NM_001098493.1:c.216del, NM_001291745.2:c.219del, NM_001291745.1:c.219del, NP_078967.3:p.Phe86fs, NP_001091961.1:p.Phe87fs, NP_001091962.1:p.Phe74fs, NP_001091963.1:p.Phe73fs, NP_001278674.1:p.Phe74fs

Select item 136259144820.

rs1362591448 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57491548 (GRCh38)
19:58002916 (GRCh37)
Canonical SPDI:: NC_000019.10:57491547:C:T
Gene:: ZNF419 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.57491548C>T, NC_000019.9:g.58002916C>T, NG_054882.1:g.8838C>T, NM_024691.4:c.150C>T, NM_024691.3:c.150C>T, NM_001098491.2:c.153C>T, NM_001098491.1:c.153C>T, NM_001098492.2:c.114C>T, NM_001098492.1:c.114C>T, NM_001098493.2:c.111C>T, NM_001098493.1:c.111C>T, NM_001291744.2:c.-16C>T, NM_001291744.1:c.-16C>T, NM_001098494.2:c.153C>T, NM_001098494.1:c.153C>T, NM_001291743.2:c.150C>T, NM_001291743.1:c.150C>T, NM_001098495.2:c.114C>T, NM_001098495.1:c.114C>T, NM_001098496.2:c.111C>T, NM_001098496.1:c.111C>T, NM_001291745.2:c.114C>T, NM_001291745.1:c.114C>T

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