Canonical Allele Identifier: CA1435773441

Gene: WFS1

Linked Data

• dbSNP Id: rs1731019913
• gnomAD v4: 4-6303015-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6303015C>T , CM000666.2:g.6303015C>T	GRCh38
NC_000004.11:g.6304742C>T , CM000666.1:g.6304742C>T	GRCh37
NC_000004.10:g.6355643C>T	NCBI36
NG_011700.1:g.38166C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.*547C>T	ENSP00000507852.1:n.*547C>T
ENST00000683395.1:c.3197C>T
ENST00000684087.1:c.*547C>T	ENSP00000506978.1:n.*547C>T
ENST00000673991.1:c.*547C>T	ENSP00000501033.1:n.*547C>T
ENST00000226760.5:c.*547C>T MANE Select	ENSP00000226760.1:n.*547C>T
ENST00000507765.1:n.3405C>T
NM_001145853.1:c.*547C>T	NP_001139325.1:n.*547C>T
NM_006005.3:c.*547C>T MANE Select	NP_005996.2:n.*547C>T
XM_017008586.1:c.*547C>T	XP_016864075.1:n.*547C>T
XR_001741566.2:n.1930G>A