Canonical Allele Identifier: CA356173770

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300657G>C , CM000666.2:g.6300657G>C	GRCh38
NC_000004.11:g.6302384G>C , CM000666.1:g.6302384G>C	GRCh37
NC_000004.10:g.6353285G>C	NCBI36
NG_011700.1:g.35808G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.898G>C	ENSP00000507852.1:p.Val300Leu
ENST00000683395.1:c.839G>C
ENST00000684087.1:c.862G>C	ENSP00000506978.1:p.Val288Leu
ENST00000506362.2:c.613G>C	ENSP00000424103.2:p.Val205Leu
ENST00000673642.1:c.661-140G>C	ENSP00000501242.1:n.661-140G>C
ENST00000673991.1:c.898G>C	ENSP00000501033.1:p.Val300Leu
ENST00000226760.5:c.862G>C MANE Select	ENSP00000226760.1:p.Val288Leu
ENST00000503569.5:c.862G>C	ENSP00000423337.1:p.Val288Leu
ENST00000506362.1:c.495G>C
ENST00000507765.1:n.1047G>C
ENST00000513395.1:n.420G>C
NM_001145853.1:c.862G>C	NP_001139325.1:p.Val288Leu
NM_006005.3:c.862G>C MANE Select	NP_005996.2:p.Val288Leu
XM_017008586.1:c.871G>C	XP_016864075.1:p.Val291Leu