SNP Links for Protein (Select 4504383) - SNP

Links from Protein

Items: 1 to 20 of 945

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Select item 14914125891.

rs1491412589 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 4:3449245 (GRCh38)
4:3450972 (GRCh37)
Canonical SPDI:: NC_000004.12:3449244:AG:
Gene:: HGFAC (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000216/4 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000035/1 (TOMMO)
-=0.00019/22 (ExAC)
-=0.000244/60 (GnomAD_exomes)
-=0.00025/35 (GnomAD)
-=0.000893/4 (Estonian)
HGVS:: NC_000004.12:g.3449245_3449246del, NC_000004.11:g.3450972_3450973del, NM_001528.4:c.1794_1795del, NM_001528.3:c.1794_1795del, NM_001528.2:c.1794_1795del, NM_001297439.2:c.1815_1816del, NM_001297439.1:c.1815_1816del, XM_047450155.1:c.1443_1444del, NP_001519.1:p.Gly600fs, NP_001284368.1:p.Gly607fs, XP_047306111.1:p.Gly483fs

Select item 14878127702.

rs1487812770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:3444402 (GRCh38)
4:3446129 (GRCh37)
Canonical SPDI:: NC_000004.12:3444401:C:G
Gene:: HGFAC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.3444402C>G, NC_000004.11:g.3446129C>G, NM_001528.4:c.690C>G, NM_001528.3:c.690C>G, NM_001528.2:c.690C>G, NM_001297439.2:c.690C>G, NM_001297439.1:c.690C>G, XM_047450155.1:c.339C>G, NP_001519.1:p.Cys230Trp, NP_001284368.1:p.Cys230Trp, XP_047306111.1:p.Cys113Trp

Select item 14869776433.

rs1486977643 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:3447509 (GRCh38)
4:3449236 (GRCh37)
Canonical SPDI:: NC_000004.12:3447508:T:A
Gene:: HGFAC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.3447509T>A, NC_000004.11:g.3449236T>A, NM_001528.4:c.1373T>A, NM_001528.3:c.1373T>A, NM_001528.2:c.1373T>A, NM_001297439.2:c.1394T>A, NM_001297439.1:c.1394T>A, XM_047450155.1:c.1022T>A, NP_001519.1:p.Val458Asp, NP_001284368.1:p.Val465Asp, XP_047306111.1:p.Val341Asp

Select item 14841185454.

rs1484118545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:3442816 (GRCh38)
4:3444543 (GRCh37)
Canonical SPDI:: NC_000004.12:3442815:C:A
Gene:: HGFAC (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.3442816C>A, NC_000004.11:g.3444543C>A, NM_001528.4:c.202C>A, NM_001528.3:c.202C>A, NM_001528.2:c.202C>A, NM_001297439.2:c.202C>A, NM_001297439.1:c.202C>A, XM_047450155.1:c.-150C>A, NP_001519.1:p.Pro68Thr, NP_001284368.1:p.Pro68Thr

Select item 14824858385.

rs1482485838 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:3443107 (GRCh38)
4:3444834 (GRCh37)
Canonical SPDI:: NC_000004.12:3443106:T:C
Gene:: HGFAC (Varview)
Functional Consequence:: missense_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_000004.12:g.3443107T>C, NC_000004.11:g.3444834T>C, NM_001528.4:c.356T>C, NM_001528.3:c.356T>C, NM_001528.2:c.356T>C, NM_001297439.2:c.356T>C, NM_001297439.1:c.356T>C, XM_047450155.1:c.5T>C, NP_001519.1:p.Leu119Pro, NP_001284368.1:p.Leu119Pro, XP_047306111.1:p.Leu2Pro

Select item 14812291996.

rs1481229199 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:3447503 (GRCh38)
4:3449230 (GRCh37)
Canonical SPDI:: NC_000004.12:3447502:A:G
Gene:: HGFAC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.3447503A>G, NC_000004.11:g.3449230A>G, NM_001528.4:c.1367A>G, NM_001528.3:c.1367A>G, NM_001528.2:c.1367A>G, NM_001297439.2:c.1388A>G, NM_001297439.1:c.1388A>G, XM_047450155.1:c.1016A>G, NP_001519.1:p.Asp456Gly, NP_001284368.1:p.Asp463Gly, XP_047306111.1:p.Asp339Gly

Select item 14806780737.

rs1480678073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:3442870 (GRCh38)
4:3444597 (GRCh37)
Canonical SPDI:: NC_000004.12:3442869:C:T
Gene:: HGFAC (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.3442870C>T, NC_000004.11:g.3444597C>T, NM_001528.4:c.256C>T, NM_001528.3:c.256C>T, NM_001528.2:c.256C>T, NM_001297439.2:c.256C>T, NM_001297439.1:c.256C>T, XM_047450155.1:c.-96C>T, NP_001519.1:p.Pro86Ser, NP_001284368.1:p.Pro86Ser

Select item 14784256528.

rs1478425652 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:3444664 (GRCh38)
4:3446391 (GRCh37)
Canonical SPDI:: NC_000004.12:3444663:C:G
Gene:: HGFAC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000054/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.3444664C>G, NC_000004.11:g.3446391C>G, NM_001528.4:c.772C>G, NM_001528.3:c.772C>G, NM_001528.2:c.772C>G, NM_001297439.2:c.772C>G, NM_001297439.1:c.772C>G, XM_047450155.1:c.421C>G, NP_001519.1:p.Leu258Val, NP_001284368.1:p.Leu258Val, XP_047306111.1:p.Leu141Val

Select item 14778861779.

rs1477886177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:3444111 (GRCh38)
4:3445838 (GRCh37)
Canonical SPDI:: NC_000004.12:3444110:C:T
Gene:: HGFAC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.3444111C>T, NC_000004.11:g.3445838C>T, NM_001528.4:c.548C>T, NM_001528.3:c.548C>T, NM_001528.2:c.548C>T, NM_001297439.2:c.548C>T, NM_001297439.1:c.548C>T, XM_047450155.1:c.197C>T, NP_001519.1:p.Ser183Phe, NP_001284368.1:p.Ser183Phe, XP_047306111.1:p.Ser66Phe

Select item 147655091710.

rs1476550917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:3446250 (GRCh38)
4:3447977 (GRCh37)
Canonical SPDI:: NC_000004.12:3446249:C:G
Gene:: HGFAC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.3446250C>G, NC_000004.11:g.3447977C>G, NM_001528.4:c.1311C>G, NM_001528.3:c.1311C>G, NM_001528.2:c.1311C>G, NM_001297439.2:c.1332C>G, NM_001297439.1:c.1332C>G, XM_047450155.1:c.960C>G

Select item 147646076311.

rs1476460763 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:3444112 (GRCh38)
4:3445839 (GRCh37)
Canonical SPDI:: NC_000004.12:3444111:C:G
Gene:: HGFAC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.3444112C>G, NC_000004.11:g.3445839C>G, NM_001528.4:c.549C>G, NM_001528.3:c.549C>G, NM_001528.2:c.549C>G, NM_001297439.2:c.549C>G, NM_001297439.1:c.549C>G, XM_047450155.1:c.198C>G

Select item 147315653212.

rs1473156532 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:3444329 (GRCh38)
4:3446056 (GRCh37)
Canonical SPDI:: NC_000004.12:3444328:C:T
Gene:: HGFAC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.3444329C>T, NC_000004.11:g.3446056C>T, NM_001528.4:c.617C>T, NM_001528.3:c.617C>T, NM_001528.2:c.617C>T, NM_001297439.2:c.617C>T, NM_001297439.1:c.617C>T, XM_047450155.1:c.266C>T, NP_001519.1:p.Thr206Ile, NP_001284368.1:p.Thr206Ile, XP_047306111.1:p.Thr89Ile

Select item 147120565313.

rs1471205653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:3443106 (GRCh38)
4:3444833 (GRCh37)
Canonical SPDI:: NC_000004.12:3443105:C:T
Gene:: HGFAC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.3443106C>T, NC_000004.11:g.3444833C>T, NM_001528.4:c.355C>T, NM_001528.3:c.355C>T, NM_001528.2:c.355C>T, NM_001297439.2:c.355C>T, NM_001297439.1:c.355C>T, XM_047450155.1:c.4C>T

Select item 147017309414.

rs1470173094 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:3447912 (GRCh38)
4:3449639 (GRCh37)
Canonical SPDI:: NC_000004.12:3447911:A:G
Gene:: HGFAC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000448/2 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000447/2 (Estonian)
HGVS:: NC_000004.12:g.3447912A>G, NC_000004.11:g.3449639A>G, NM_001528.4:c.1513A>G, NM_001528.3:c.1513A>G, NM_001528.2:c.1513A>G, NM_001297439.2:c.1534A>G, NM_001297439.1:c.1534A>G, XM_047450155.1:c.1162A>G, NP_001519.1:p.Lys505Glu, NP_001284368.1:p.Lys512Glu, XP_047306111.1:p.Lys388Glu

Select item 146977746815.

rs1469777468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:3447496 (GRCh38)
4:3449223 (GRCh37)
Canonical SPDI:: NC_000004.12:3447495:C:G
Gene:: HGFAC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.3447496C>G, NC_000004.11:g.3449223C>G, NM_001528.4:c.1360C>G, NM_001528.3:c.1360C>G, NM_001528.2:c.1360C>G, NM_001297439.2:c.1381C>G, NM_001297439.1:c.1381C>G, XM_047450155.1:c.1009C>G, NP_001519.1:p.Pro454Ala, NP_001284368.1:p.Pro461Ala, XP_047306111.1:p.Pro337Ala

Select item 146646388516.

rs1466463885 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:3447957 (GRCh38)
4:3449684 (GRCh37)
Canonical SPDI:: NC_000004.12:3447956:A:G,NC_000004.12:3447956:A:T
Gene:: HGFAC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.3447957A>G, NC_000004.12:g.3447957A>T, NC_000004.11:g.3449684A>G, NC_000004.11:g.3449684A>T, NM_001528.4:c.1558A>G, NM_001528.4:c.1558A>T, NM_001528.3:c.1558A>G, NM_001528.3:c.1558A>T, NM_001528.2:c.1558A>G, NM_001528.2:c.1558A>T, NM_001297439.2:c.1579A>G, NM_001297439.2:c.1579A>T, NM_001297439.1:c.1579A>G, NM_001297439.1:c.1579A>T, XM_047450155.1:c.1207A>G, XM_047450155.1:c.1207A>T, NP_001519.1:p.Ile520Val, NP_001519.1:p.Ile520Phe, NP_001284368.1:p.Ile527Val, NP_001284368.1:p.Ile527Phe, XP_047306111.1:p.Ile403Val, XP_047306111.1:p.Ile403Phe

Select item 146522770817.

rs1465227708 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:3444343 (GRCh38)
4:3446070 (GRCh37)
Canonical SPDI:: NC_000004.12:3444342:C:T
Gene:: HGFAC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.3444343C>T, NC_000004.11:g.3446070C>T, NM_001528.4:c.631C>T, NM_001528.3:c.631C>T, NM_001528.2:c.631C>T, NM_001297439.2:c.631C>T, NM_001297439.1:c.631C>T, XM_047450155.1:c.280C>T

Select item 146366011918.

rs1463660119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:3443082 (GRCh38)
4:3444809 (GRCh37)
Canonical SPDI:: NC_000004.12:3443081:C:G
Gene:: HGFAC (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000057/2 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.3443082C>G, NC_000004.11:g.3444809C>G, NM_001528.4:c.331C>G, NM_001528.3:c.331C>G, NM_001528.2:c.331C>G, NM_001297439.2:c.331C>G, NM_001297439.1:c.331C>G, XM_047450155.1:c.-21C>G, NP_001519.1:p.Pro111Ala, NP_001284368.1:p.Pro111Ala

Select item 146344773919.

rs1463447739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:3443083 (GRCh38)
4:3444810 (GRCh37)
Canonical SPDI:: NC_000004.12:3443082:C:T
Gene:: HGFAC (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000004.12:g.3443083C>T, NC_000004.11:g.3444810C>T, NM_001528.4:c.332C>T, NM_001528.3:c.332C>T, NM_001528.2:c.332C>T, NM_001297439.2:c.332C>T, NM_001297439.1:c.332C>T, XM_047450155.1:c.-20C>T, NP_001519.1:p.Pro111Leu, NP_001284368.1:p.Pro111Leu

Select item 146211843620.

rs1462118436 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:3442784 (GRCh38)
4:3444511 (GRCh37)
Canonical SPDI:: NC_000004.12:3442783:C:A,NC_000004.12:3442783:C:T
Gene:: HGFAC (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.3442784C>A, NC_000004.12:g.3442784C>T, NC_000004.11:g.3444511C>A, NC_000004.11:g.3444511C>T, NM_001528.4:c.170C>A, NM_001528.4:c.170C>T, NM_001528.3:c.170C>A, NM_001528.3:c.170C>T, NM_001528.2:c.170C>A, NM_001528.2:c.170C>T, NM_001297439.2:c.170C>A, NM_001297439.2:c.170C>T, NM_001297439.1:c.170C>A, NM_001297439.1:c.170C>T, XM_047450155.1:c.-182C>A, XM_047450155.1:c.-182C>T, NP_001519.1:p.Thr57Asn, NP_001519.1:p.Thr57Ile, NP_001284368.1:p.Thr57Asn, NP_001284368.1:p.Thr57Ile

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