Canonical Allele Identifier: CA549708014

Gene: WFS1

Linked Data

• gnomAD v2: 4-6302259-G-C
• gnomAD v3: 4-6300532-G-C
• gnomAD v4: 4-6300532-G-C
• MyVariant Identifiers: chr4:g.6302259G>C (hg19) ; chr4:g.6300532G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300532G>C , CM000666.2:g.6300532G>C	GRCh38
NC_000004.11:g.6302259G>C , CM000666.1:g.6302259G>C	GRCh37
NC_000004.10:g.6353160G>C	NCBI36
NG_011700.1:g.35683G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.898-125G>C	ENSP00000507852.1:n.898-125G>C
ENST00000683395.1:c.839-125G>C
ENST00000684087.1:c.862-125G>C	ENSP00000506978.1:n.862-125G>C
ENST00000506362.2:c.613-125G>C	ENSP00000424103.2:n.613-125G>C
ENST00000673642.1:c.661-265G>C	ENSP00000501242.1:n.661-265G>C
ENST00000673991.1:c.898-125G>C	ENSP00000501033.1:n.898-125G>C
ENST00000226760.5:c.862-125G>C MANE Select	ENSP00000226760.1:n.862-125G>C
ENST00000503569.5:c.862-125G>C	ENSP00000423337.1:n.862-125G>C
ENST00000506362.1:c.495-125G>C
ENST00000507765.1:n.1047-125G>C
ENST00000513395.1:n.420-125G>C
NM_001145853.1:c.862-125G>C	NP_001139325.1:n.862-125G>C
NM_006005.3:c.862-125G>C MANE Select	NP_005996.2:n.862-125G>C
XM_017008586.1:c.871-125G>C	XP_016864075.1:n.871-125G>C