Canonical Allele Identifier: CA91796459
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2164677
ClinVar RCV Id: RCV003088156
dbSNP Id: rs766673431
gnomAD v2: 4-6303203-A-C
gnomAD v4: 4-6301476-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301476A>C , CM000666.2:g.6301476A>C GRCh38
NC_000004.11:g.6303203A>C , CM000666.1:g.6303203A>C GRCh37
NC_000004.10:g.6354104A>C NCBI36
NG_011700.1:g.36627A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1717A>C ENSP00000507852.1:p.Ile573Leu
ENST00000683395.1:c.1658A>C
ENST00000684087.1:c.1681A>C ENSP00000506978.1:p.Ile561Leu
ENST00000506362.2:c.1432A>C ENSP00000424103.2:p.Ile478Leu
ENST00000673642.1:c.1340A>C ENSP00000501242.1:n.1340A>C
ENST00000673991.1:c.1717A>C ENSP00000501033.1:p.Ile573Leu
ENST00000226760.5:c.1681A>C MANE Select ENSP00000226760.1:p.Ile561Leu
ENST00000503569.5:c.1681A>C ENSP00000423337.1:p.Ile561Leu
ENST00000507765.1:n.1866A>C
NM_001145853.1:c.1681A>C NP_001139325.1:p.Ile561Leu
NM_006005.3:c.1681A>C MANE Select NP_005996.2:p.Ile561Leu
XM_017008586.1:c.1690A>C XP_016864075.1:p.Ile564Leu