Canonical Allele Identifier: CA2839814

Gene: WFS1

Linked Data

• ClinVar Variation Id: 229645
• ClinVar RCV Id: RCV000216280 ; RCV000998220 ; RCV003147416
• dbSNP Id: rs570527044
• ExAC: 4:6304154 G / A
• gnomAD v2: 4-6304154-G-A
• gnomAD v3: 4-6302427-G-A
• gnomAD v4: 4-6302427-G-A
• MyVariant Identifiers: chr4:g.6304154G>A (hg19) ; chr4:g.6302427G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302427G>A , CM000666.2:g.6302427G>A	GRCh38
NC_000004.11:g.6304154G>A , CM000666.1:g.6304154G>A	GRCh37
NC_000004.10:g.6355055G>A	NCBI36
NG_011700.1:g.37578G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2668G>A	ENSP00000507852.1:p.Ala890Thr
ENST00000683395.1:c.2609G>A
ENST00000684087.1:c.2632G>A	ENSP00000506978.1:p.Ala878Thr
ENST00000506362.2:c.2383G>A	ENSP00000424103.2:p.Ala795Thr
ENST00000673991.1:c.2668G>A	ENSP00000501033.1:p.Ala890Thr
ENST00000226760.5:c.2632G>A MANE Select	ENSP00000226760.1:p.Ala878Thr
ENST00000503569.5:c.2632G>A	ENSP00000423337.1:p.Ala878Thr
ENST00000507765.1:n.2817G>A
NM_001145853.1:c.2632G>A	NP_001139325.1:p.Ala878Thr
NM_006005.3:c.2632G>A MANE Select	NP_005996.2:p.Ala878Thr
XM_017008586.1:c.2641G>A	XP_016864075.1:p.Ala881Thr