Canonical Allele Identifier: CA356171818

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6289132G>C , CM000666.2:g.6289132G>C	GRCh38
NC_000004.11:g.6290859G>C , CM000666.1:g.6290859G>C	GRCh37
NC_000004.10:g.6341760G>C	NCBI36
NG_011700.1:g.24283G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.460+1G>C MANE Select	NP_005996.2:n.460+1G>C
ENST00000226760.5:c.460+1G>C MANE Select	ENSP00000226760.1:n.460+1G>C
NM_001145853.1:c.460+1G>C	NP_001139325.1:n.460+1G>C
ENST00000503569.5:c.460+1G>C	ENSP00000423337.1:n.460+1G>C
ENST00000506362.1:c.57+1G>C
ENST00000506362.2:c.211+1G>C	ENSP00000424103.2:n.211+1G>C
ENST00000507765.1:n.645+1G>C
ENST00000673642.1:c.259+1G>C	ENSP00000501242.1:n.259+1G>C
ENST00000673991.1:c.460+1G>C	ENSP00000501033.1:n.460+1G>C
ENST00000674051.1:c.334+1G>C	ENSP00000501083.1:n.334+1G>C
ENST00000682275.1:c.460+1G>C	ENSP00000507852.1:n.460+1G>C
ENST00000683395.1:c.450+1G>C
ENST00000684054.1:c.461G>C	ENSP00000507120.1:p.Gly154Ala
ENST00000684087.1:c.460+1G>C	ENSP00000506978.1:n.460+1G>C
ENST00000684700.1:c.460+1G>C	ENSP00000507806.1:n.460+1G>C
XM_017008586.1:c.469+1G>C	XP_016864075.1:n.469+1G>C