Canonical Allele Identifier: CA356176753
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1801210
gnomAD v2: 4-6303277-C-A
gnomAD v4: 4-6301550-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301550C>A , CM000666.2:g.6301550C>A GRCh38
NC_000004.11:g.6303277C>A , CM000666.1:g.6303277C>A GRCh37
NC_000004.10:g.6354178C>A NCBI36
NG_011700.1:g.36701C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1791C>A ENSP00000507852.1:p.Phe597Leu
ENST00000683395.1:c.1732C>A
ENST00000684087.1:c.1755C>A ENSP00000506978.1:p.Phe585Leu
ENST00000506362.2:c.1506C>A ENSP00000424103.2:p.Phe502Leu
ENST00000673642.1:c.1414C>A ENSP00000501242.1:n.1414C>A
ENST00000673991.1:c.1791C>A ENSP00000501033.1:p.Phe597Leu
ENST00000226760.5:c.1755C>A MANE Select ENSP00000226760.1:p.Phe585Leu
ENST00000503569.5:c.1755C>A ENSP00000423337.1:p.Phe585Leu
ENST00000507765.1:n.1940C>A
NM_001145853.1:c.1755C>A NP_001139325.1:p.Phe585Leu
NM_006005.3:c.1755C>A MANE Select NP_005996.2:p.Phe585Leu
XM_017008586.1:c.1764C>A XP_016864075.1:p.Phe588Leu