Canonical Allele Identifier: CA2838877

Gene: WFS1

Linked Data

• ClinVar Variation Id: 372583
• ClinVar RCV Id: RCV000413912 ; RCV002469144
• dbSNP Id: rs145639028
• ExAC: 4:6290774 G / A
• gnomAD v2: 4-6290774-G-A
• gnomAD v3: 4-6289047-G-A
• gnomAD v4: 4-6289047-G-A
• MyVariant Identifiers: chr4:g.6290774G>A (hg19) ; chr4:g.6289047G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6289047G>A , CM000666.2:g.6289047G>A	GRCh38
NC_000004.11:g.6290774G>A , CM000666.1:g.6290774G>A	GRCh37
NC_000004.10:g.6341675G>A	NCBI36
NG_011700.1:g.24198G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.376G>A	ENSP00000507852.1:p.Ala126Thr
ENST00000683395.1:c.366G>A
ENST00000684054.1:c.376G>A	ENSP00000507120.1:p.Ala126Thr
ENST00000684087.1:c.376G>A	ENSP00000506978.1:p.Ala126Thr
ENST00000684700.1:c.376G>A	ENSP00000507806.1:p.Ala126Thr
ENST00000506362.2:c.127G>A	ENSP00000424103.2:p.Ala43Thr
ENST00000673642.1:c.175G>A	ENSP00000501242.1:p.Ala59Thr
ENST00000673991.1:c.376G>A	ENSP00000501033.1:p.Ala126Thr
ENST00000674051.1:c.250G>A	ENSP00000501083.1:p.Ala84Thr
ENST00000226760.5:c.376G>A MANE Select	ENSP00000226760.1:p.Ala126Thr
ENST00000503569.5:c.376G>A	ENSP00000423337.1:p.Ala126Thr
ENST00000507765.1:n.561G>A
NM_001145853.1:c.376G>A	NP_001139325.1:p.Ala126Thr
NM_006005.3:c.376G>A MANE Select	NP_005996.2:p.Ala126Thr
XM_017008586.1:c.385G>A	XP_016864075.1:p.Ala129Thr