Canonical Allele Identifier: CA91796170

Gene: WFS1

Linked Data

• dbSNP Id: rs55753156
• gnomAD v2: 4-6302202-G-A
• gnomAD v3: 4-6300475-G-A
• gnomAD v4: 4-6300475-G-A
• MyVariant Identifiers: chr4:g.6302202G>A (hg19) ; chr4:g.6300475G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300475G>A , CM000666.2:g.6300475G>A	GRCh38
NC_000004.11:g.6302202G>A , CM000666.1:g.6302202G>A	GRCh37
NC_000004.10:g.6353103G>A	NCBI36
NG_011700.1:g.35626G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.898-182G>A	ENSP00000507852.1:n.898-182G>A
ENST00000683395.1:c.839-182G>A
ENST00000684087.1:c.862-182G>A	ENSP00000506978.1:n.862-182G>A
ENST00000506362.2:c.613-182G>A	ENSP00000424103.2:n.613-182G>A
ENST00000673642.1:c.661-322G>A	ENSP00000501242.1:n.661-322G>A
ENST00000673991.1:c.898-182G>A	ENSP00000501033.1:n.898-182G>A
ENST00000226760.5:c.862-182G>A MANE Select	ENSP00000226760.1:n.862-182G>A
ENST00000503569.5:c.862-182G>A	ENSP00000423337.1:n.862-182G>A
ENST00000506362.1:c.495-182G>A
ENST00000507765.1:n.1047-182G>A
ENST00000513395.1:n.420-182G>A
NM_001145853.1:c.862-182G>A	NP_001139325.1:n.862-182G>A
NM_006005.3:c.862-182G>A MANE Select	NP_005996.2:n.862-182G>A
XM_017008586.1:c.871-182G>A	XP_016864075.1:n.871-182G>A