Canonical Allele Identifier: CA2839529
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 289011
ClinVar RCV Id: RCV000280969 RCV001152089 RCV001152090
dbSNP Id: rs747477628
ExAC: 4:6303393 T / C
gnomAD v2: 4-6303393-T-C
gnomAD v3: 4-6301666-T-C
gnomAD v4: 4-6301666-T-C
MyVariant Identifiers: chr4:g.6303393T>C (hg19) chr4:g.6301666T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301666T>C , CM000666.2:g.6301666T>C GRCh38
NC_000004.11:g.6303393T>C , CM000666.1:g.6303393T>C GRCh37
NC_000004.10:g.6354294T>C NCBI36
NG_011700.1:g.36817T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.1907T>C ENSP00000507852.1:p.Val636Ala
ENST00000683395.1:c.1848T>C
ENST00000684087.1:c.1871T>C ENSP00000506978.1:p.Val624Ala
ENST00000506362.2:c.1622T>C ENSP00000424103.2:p.Val541Ala
ENST00000673642.1:c.1530T>C ENSP00000501242.1:n.1530T>C
ENST00000673991.1:c.1907T>C ENSP00000501033.1:p.Val636Ala
ENST00000226760.5:c.1871T>C MANE Select ENSP00000226760.1:p.Val624Ala
ENST00000503569.5:c.1871T>C ENSP00000423337.1:p.Val624Ala
ENST00000507765.1:n.2056T>C
NM_001145853.1:c.1871T>C NP_001139325.1:p.Val624Ala
NM_006005.3:c.1871T>C MANE Select NP_005996.2:p.Val624Ala
XM_017008586.1:c.1880T>C XP_016864075.1:p.Val627Ala
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