Canonical Allele Identifier: CA2839124

Gene: WFS1

Linked Data

• dbSNP Id: rs764575177
• ExAC: 4:6302367 T / C
• gnomAD v2: 4-6302367-T-C
• gnomAD v4: 4-6300640-T-C
• MyVariant Identifiers: chr4:g.6302367T>C (hg19) ; chr4:g.6300640T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300640T>C , CM000666.2:g.6300640T>C	GRCh38
NC_000004.11:g.6302367T>C , CM000666.1:g.6302367T>C	GRCh37
NC_000004.10:g.6353268T>C	NCBI36
NG_011700.1:g.35791T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.898-17T>C	ENSP00000507852.1:n.898-17T>C
ENST00000683395.1:c.839-17T>C
ENST00000684087.1:c.862-17T>C	ENSP00000506978.1:n.862-17T>C
ENST00000506362.2:c.613-17T>C	ENSP00000424103.2:n.613-17T>C
ENST00000673642.1:c.661-157T>C	ENSP00000501242.1:n.661-157T>C
ENST00000673991.1:c.898-17T>C	ENSP00000501033.1:n.898-17T>C
ENST00000226760.5:c.862-17T>C MANE Select	ENSP00000226760.1:n.862-17T>C
ENST00000503569.5:c.862-17T>C	ENSP00000423337.1:n.862-17T>C
ENST00000506362.1:c.495-17T>C
ENST00000507765.1:n.1047-17T>C
ENST00000513395.1:n.420-17T>C
NM_001145853.1:c.862-17T>C	NP_001139325.1:n.862-17T>C
NM_006005.3:c.862-17T>C MANE Select	NP_005996.2:n.862-17T>C
XM_017008586.1:c.871-17T>C	XP_016864075.1:n.871-17T>C