Canonical Allele Identifier: CA91794537

Gene: WFS1

Linked Data

• dbSNP Id: rs542813741
• gnomAD v2: 4-6292702-G-C
• gnomAD v3: 4-6290975-G-C
• gnomAD v4: 4-6290975-G-C
• MyVariant Identifiers: chr4:g.6292702G>C (hg19) ; chr4:g.6290975G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6290975G>C , CM000666.2:g.6290975G>C	GRCh38
NC_000004.11:g.6292702G>C , CM000666.1:g.6292702G>C	GRCh37
NC_000004.10:g.6343603G>C	NCBI36
NG_011700.1:g.26126G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.461-222G>C	ENSP00000507852.1:n.461-222G>C
ENST00000683395.1:c.451-222G>C
ENST00000684087.1:c.461-222G>C	ENSP00000506978.1:n.461-222G>C
ENST00000684700.1:c.461-222G>C	ENSP00000507806.1:n.461-222G>C
ENST00000506362.2:c.212-222G>C	ENSP00000424103.2:n.212-222G>C
ENST00000673642.1:c.260-222G>C	ENSP00000501242.1:n.260-222G>C
ENST00000673991.1:c.461-222G>C	ENSP00000501033.1:n.461-222G>C
ENST00000674051.1:c.335-222G>C	ENSP00000501083.1:n.335-222G>C
ENST00000226760.5:c.461-222G>C MANE Select	ENSP00000226760.1:n.461-222G>C
ENST00000503569.5:c.461-222G>C	ENSP00000423337.1:n.461-222G>C
ENST00000506362.1:c.58-222G>C
ENST00000507765.1:n.646-222G>C
NM_001145853.1:c.461-222G>C	NP_001139325.1:n.461-222G>C
NM_006005.3:c.461-222G>C MANE Select	NP_005996.2:n.461-222G>C
XM_017008586.1:c.470-222G>C	XP_016864075.1:n.470-222G>C