Canonical Allele Identifier: CA356178521

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302200T>C , CM000666.2:g.6302200T>C	GRCh38
NC_000004.11:g.6303927T>C , CM000666.1:g.6303927T>C	GRCh37
NC_000004.10:g.6354828T>C	NCBI36
NG_011700.1:g.37351T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.2405T>C MANE Select	NP_005996.2:p.Ile802Thr
ENST00000226760.5:c.2405T>C MANE Select	ENSP00000226760.1:p.Ile802Thr
NM_001145853.1:c.2405T>C	NP_001139325.1:p.Ile802Thr
ENST00000503569.5:c.2405T>C	ENSP00000423337.1:p.Ile802Thr
ENST00000506362.2:c.2156T>C	ENSP00000424103.2:p.Ile719Thr
ENST00000507765.1:n.2590T>C
ENST00000673991.1:c.2441T>C	ENSP00000501033.1:p.Ile814Thr
ENST00000682275.1:c.2441T>C	ENSP00000507852.1:p.Ile814Thr
ENST00000683395.1:c.2382T>C
ENST00000684087.1:c.2405T>C	ENSP00000506978.1:p.Ile802Thr
XM_017008586.1:c.2414T>C	XP_016864075.1:p.Ile805Thr