Canonical Allele Identifier: CA549708010

Gene: WFS1

Linked Data

• dbSNP Id: rs1387654313
• gnomAD v2: 4-6302186-G-C
• gnomAD v3: 4-6300459-G-C
• gnomAD v4: 4-6300459-G-C
• MyVariant Identifiers: chr4:g.6302186G>C (hg19) ; chr4:g.6300459G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300459G>C , CM000666.2:g.6300459G>C	GRCh38
NC_000004.11:g.6302186G>C , CM000666.1:g.6302186G>C	GRCh37
NC_000004.10:g.6353087G>C	NCBI36
NG_011700.1:g.35610G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.898-198G>C	ENSP00000507852.1:n.898-198G>C
ENST00000683395.1:c.839-198G>C
ENST00000684087.1:c.862-198G>C	ENSP00000506978.1:n.862-198G>C
ENST00000506362.2:c.613-198G>C	ENSP00000424103.2:n.613-198G>C
ENST00000673642.1:c.661-338G>C	ENSP00000501242.1:n.661-338G>C
ENST00000673991.1:c.898-198G>C	ENSP00000501033.1:n.898-198G>C
ENST00000226760.5:c.862-198G>C MANE Select	ENSP00000226760.1:n.862-198G>C
ENST00000503569.5:c.862-198G>C	ENSP00000423337.1:n.862-198G>C
ENST00000506362.1:c.495-198G>C
ENST00000507765.1:n.1047-198G>C
ENST00000513395.1:n.420-198G>C
NM_001145853.1:c.862-198G>C	NP_001139325.1:n.862-198G>C
NM_006005.3:c.862-198G>C MANE Select	NP_005996.2:n.862-198G>C
XM_017008586.1:c.871-198G>C	XP_016864075.1:n.871-198G>C