Canonical Allele Identifier: CA438368642

Gene: WFS1

Linked Data

• dbSNP Id: rs755078133
• gnomAD v4: 4-6301697-G-A
• MyVariant Identifiers: chr4:g.6303424G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301697G>A , CM000666.2:g.6301697G>A	GRCh38
NC_000004.11:g.6303424G>A , CM000666.1:g.6303424G>A	GRCh37
NC_000004.10:g.6354325G>A	NCBI36
NG_011700.1:g.36848G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1938G>A	ENSP00000507852.1:p.Lys646=
ENST00000683395.1:c.1879G>A
ENST00000684087.1:c.1902G>A	ENSP00000506978.1:p.Lys634=
ENST00000506362.2:c.1653G>A	ENSP00000424103.2:p.Lys551=
ENST00000673642.1:c.1561G>A	ENSP00000501242.1:n.1561G>A
ENST00000673991.1:c.1938G>A	ENSP00000501033.1:p.Lys646=
ENST00000226760.5:c.1902G>A MANE Select	ENSP00000226760.1:p.Lys634=
ENST00000503569.5:c.1902G>A	ENSP00000423337.1:p.Lys634=
ENST00000507765.1:n.2087G>A
NM_001145853.1:c.1902G>A	NP_001139325.1:p.Lys634=
NM_006005.3:c.1902G>A MANE Select	NP_005996.2:p.Lys634=
XM_017008586.1:c.1911G>A	XP_016864075.1:p.Lys637=