Canonical Allele Identifier: CA182624

Gene: WFS1

Linked Data

• ClinVar Variation Id: 178594
• ClinVar RCV Id: RCV000155344 ; RCV000335610 ; RCV000402869 ; RCV000877309 ; RCV003126555
• dbSNP Id: rs61735402
• ExAC: 4:6303196 C / T
• gnomAD v2: 4-6303196-C-T
• gnomAD v3: 4-6301469-C-T
• gnomAD v4: 4-6301469-C-T
• MyVariant Identifiers: chr4:g.6303196C>T (hg19) ; chr4:g.6301469C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301469C>T , CM000666.2:g.6301469C>T	GRCh38
NC_000004.11:g.6303196C>T , CM000666.1:g.6303196C>T	GRCh37
NC_000004.10:g.6354097C>T	NCBI36
NG_011700.1:g.36620C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1710C>T	ENSP00000507852.1:p.Arg570=
ENST00000683395.1:c.1651C>T
ENST00000684087.1:c.1674C>T	ENSP00000506978.1:p.Arg558=
ENST00000506362.2:c.1425C>T	ENSP00000424103.2:p.Arg475=
ENST00000673642.1:c.1333C>T	ENSP00000501242.1:n.1333C>T
ENST00000673991.1:c.1710C>T	ENSP00000501033.1:p.Arg570=
ENST00000226760.5:c.1674C>T MANE Select	ENSP00000226760.1:p.Arg558=
ENST00000503569.5:c.1674C>T	ENSP00000423337.1:p.Arg558=
ENST00000507765.1:n.1859C>T
NM_001145853.1:c.1674C>T	NP_001139325.1:p.Arg558=
NM_006005.3:c.1674C>T MANE Select	NP_005996.2:p.Arg558=
XM_017008586.1:c.1683C>T	XP_016864075.1:p.Arg561=