Canonical Allele Identifier: CA2839528
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1374367
ClinVar RCV Id: RCV001877790
dbSNP Id: rs778295023
gnomAD v2: 4-6303391-G-A
gnomAD v4: 4-6301664-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301664G>A , CM000666.2:g.6301664G>A GRCh38
NC_000004.11:g.6303391G>A , CM000666.1:g.6303391G>A GRCh37
NC_000004.10:g.6354292G>A NCBI36
NG_011700.1:g.36815G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1905G>A ENSP00000507852.1:p.Met635Ile
ENST00000683395.1:c.1846G>A
ENST00000684087.1:c.1869G>A ENSP00000506978.1:p.Met623Ile
ENST00000506362.2:c.1620G>A ENSP00000424103.2:p.Met540Ile
ENST00000673642.1:c.1528G>A ENSP00000501242.1:n.1528G>A
ENST00000673991.1:c.1905G>A ENSP00000501033.1:p.Met635Ile
ENST00000226760.5:c.1869G>A MANE Select ENSP00000226760.1:p.Met623Ile
ENST00000503569.5:c.1869G>A ENSP00000423337.1:p.Met623Ile
ENST00000507765.1:n.2054G>A
NM_001145853.1:c.1869G>A NP_001139325.1:p.Met623Ile
NM_006005.3:c.1869G>A MANE Select NP_005996.2:p.Met623Ile
XM_017008586.1:c.1878G>A XP_016864075.1:p.Met626Ile