Canonical Allele Identifier: CA549707991

Gene: WFS1

Linked Data

• dbSNP Id: rs1246926670
• gnomAD v2: 4-6293225-G-T
• gnomAD v3: 4-6291498-G-T
• gnomAD v4: 4-6291498-G-T
• MyVariant Identifiers: chr4:g.6293225G>T (hg19) ; chr4:g.6291498G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291498G>T , CM000666.2:g.6291498G>T	GRCh38
NC_000004.11:g.6293225G>T , CM000666.1:g.6293225G>T	GRCh37
NC_000004.10:g.6344126G>T	NCBI36
NG_011700.1:g.26649G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.631+131G>T	ENSP00000507852.1:n.631+131G>T
ENST00000683395.1:c.608+144G>T
ENST00000684087.1:c.631+131G>T	ENSP00000506978.1:n.631+131G>T
ENST00000684700.1:c.*57G>T	ENSP00000507806.1:n.*57G>T
ENST00000506362.2:c.382+131G>T	ENSP00000424103.2:n.382+131G>T
ENST00000673642.1:c.430+131G>T	ENSP00000501242.1:n.430+131G>T
ENST00000673991.1:c.631+131G>T	ENSP00000501033.1:n.631+131G>T
ENST00000226760.5:c.631+131G>T MANE Select	ENSP00000226760.1:n.631+131G>T
ENST00000503569.5:c.631+131G>T	ENSP00000423337.1:n.631+131G>T
ENST00000506362.1:c.228+131G>T
ENST00000507765.1:n.816+131G>T
NM_001145853.1:c.631+131G>T	NP_001139325.1:n.631+131G>T
NM_006005.3:c.631+131G>T MANE Select	NP_005996.2:n.631+131G>T
XM_017008586.1:c.640+131G>T	XP_016864075.1:n.640+131G>T