Canonical Allele Identifier: CA797211835

Gene: WFS1

Linked Data

• dbSNP Id: rs1299929607
• gnomAD v4: 4-6302592-G-A
• MyVariant Identifiers: chr4:g.6304319G>A (hg19) ; chr4:g.6302592G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302592G>A , CM000666.2:g.6302592G>A	GRCh38
NC_000004.11:g.6304319G>A , CM000666.1:g.6304319G>A	GRCh37
NC_000004.10:g.6355220G>A	NCBI36
NG_011700.1:g.37743G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.*124G>A	ENSP00000507852.1:n.*124G>A
ENST00000683395.1:c.2774G>A
ENST00000684087.1:c.*124G>A	ENSP00000506978.1:n.*124G>A
ENST00000506362.2:c.*124G>A	ENSP00000424103.2:n.*124G>A
ENST00000673991.1:c.*124G>A	ENSP00000501033.1:n.*124G>A
ENST00000226760.5:c.*124G>A MANE Select	ENSP00000226760.1:n.*124G>A
ENST00000503569.5:c.*124G>A	ENSP00000423337.1:n.*124G>A
ENST00000507765.1:n.2982G>A
NM_001145853.1:c.*124G>A	NP_001139325.1:n.*124G>A
NM_006005.3:c.*124G>A MANE Select	NP_005996.2:n.*124G>A
XM_017008586.1:c.*124G>A	XP_016864075.1:n.*124G>A