Canonical Allele Identifier: CA179669

Gene: WFS1

Linked Data

• ClinVar Variation Id: 130750
• ClinVar RCV Id: RCV000118868 ; RCV000152692 ; RCV003126500
• dbSNP Id: rs202195756
• ExAC: 4:6303704 G / A
• gnomAD v2: 4-6303704-G-A
• gnomAD v3: 4-6301977-G-A
• gnomAD v4: 4-6301977-G-A
• MyVariant Identifiers: chr4:g.6303704G>A (hg19) ; chr4:g.6301977G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301977G>A , CM000666.2:g.6301977G>A	GRCh38
NC_000004.11:g.6303704G>A , CM000666.1:g.6303704G>A	GRCh37
NC_000004.10:g.6354605G>A	NCBI36
NG_011700.1:g.37128G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2218G>A	ENSP00000507852.1:p.Gly740Ser
ENST00000683395.1:c.2159G>A
ENST00000684087.1:c.2182G>A	ENSP00000506978.1:p.Gly728Ser
ENST00000506362.2:c.1933G>A	ENSP00000424103.2:p.Gly645Ser
ENST00000673642.1:c.1841G>A	ENSP00000501242.1:n.1841G>A
ENST00000673991.1:c.2218G>A	ENSP00000501033.1:p.Gly740Ser
ENST00000226760.5:c.2182G>A MANE Select	ENSP00000226760.1:p.Gly728Ser
ENST00000503569.5:c.2182G>A	ENSP00000423337.1:p.Gly728Ser
ENST00000507765.1:n.2367G>A
NM_001145853.1:c.2182G>A	NP_001139325.1:p.Gly728Ser
NM_006005.3:c.2182G>A MANE Select	NP_005996.2:p.Gly728Ser
XM_017008586.1:c.2191G>A	XP_016864075.1:p.Gly731Ser