Canonical Allele Identifier: CA2839200

Gene: WFS1

Linked Data

• dbSNP Id: rs534527637
• ExAC: 4:6302563 G / A
• gnomAD v2: 4-6302563-G-A
• gnomAD v3: 4-6300836-G-A
• gnomAD v4: 4-6300836-G-A
• MyVariant Identifiers: chr4:g.6302563G>A (hg19) ; chr4:g.6300836G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300836G>A , CM000666.2:g.6300836G>A	GRCh38
NC_000004.11:g.6302563G>A , CM000666.1:g.6302563G>A	GRCh37
NC_000004.10:g.6353464G>A	NCBI36
NG_011700.1:g.35987G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1077G>A	ENSP00000507852.1:p.Leu359=
ENST00000683395.1:c.1018G>A
ENST00000684087.1:c.1041G>A	ENSP00000506978.1:p.Leu347=
ENST00000506362.2:c.792G>A	ENSP00000424103.2:p.Leu264=
ENST00000673642.1:c.700G>A	ENSP00000501242.1:p.Gly234Ser
ENST00000673991.1:c.1077G>A	ENSP00000501033.1:p.Leu359=
ENST00000226760.5:c.1041G>A MANE Select	ENSP00000226760.1:p.Leu347=
ENST00000503569.5:c.1041G>A	ENSP00000423337.1:p.Leu347=
ENST00000506362.1:c.674G>A
ENST00000507765.1:n.1226G>A
NM_001145853.1:c.1041G>A	NP_001139325.1:p.Leu347=
NM_006005.3:c.1041G>A MANE Select	NP_005996.2:p.Leu347=
XM_017008586.1:c.1050G>A	XP_016864075.1:p.Leu350=