Canonical Allele Identifier: CA179627

Gene: WFS1

Linked Data

• ClinVar Variation Id: 166568
• ClinVar RCV Id: RCV000152662 ; RCV002509039
• dbSNP Id: rs727503746
• gnomAD v4: 4-6277583-C-T
• MyVariant Identifiers: chr4:g.6279310C>T (hg19) ; chr4:g.6277583C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6277583C>T , CM000666.2:g.6277583C>T	GRCh38
NC_000004.11:g.6279310C>T , CM000666.1:g.6279310C>T	GRCh37
NC_000004.10:g.6330211C>T	NCBI36
NG_011700.1:g.12734C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506588.6:n.298C>T
ENST00000682059.1:c.128C>T	ENSP00000507988.1:p.Ala43Val
ENST00000682275.1:c.128C>T	ENSP00000507852.1:p.Ala43Val
ENST00000683395.1:c.118C>T
ENST00000684054.1:c.128C>T	ENSP00000507120.1:p.Ala43Val
ENST00000684087.1:c.128C>T	ENSP00000506978.1:p.Ala43Val
ENST00000684700.1:c.128C>T	ENSP00000507806.1:p.Ala43Val
ENST00000506362.2:c.-18+7569C>T	ENSP00000424103.2:n.-18+7569C>T
ENST00000673991.1:c.128C>T	ENSP00000501033.1:p.Ala43Val
ENST00000674051.1:c.66+62C>T	ENSP00000501083.1:n.66+62C>T
ENST00000226760.5:c.128C>T MANE Select	ENSP00000226760.1:p.Ala43Val
ENST00000503569.5:c.128C>T	ENSP00000423337.1:p.Ala43Val
ENST00000506588.5:n.298C>T
NM_001145853.1:c.128C>T	NP_001139325.1:p.Ala43Val
NM_006005.3:c.128C>T MANE Select	NP_005996.2:p.Ala43Val
XM_017008586.1:c.137C>T	XP_016864075.1:p.Ala46Val