Canonical Allele Identifier: CA2839273

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2065040
• ClinVar RCV Id: RCV002953888
• dbSNP Id: rs1005853401
• ExAC: 4:6302752 C / T
• gnomAD v2: 4-6302752-C-T
• gnomAD v4: 4-6301025-C-T
• MyVariant Identifiers: chr4:g.6302752C>T (hg19) ; chr4:g.6302752_6302756delinsTTCTG (hg19) ; chr4:g.6301025C>T (hg38) ; chr4:g.6301025_6301029delinsTTCTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301025C>T , CM000666.2:g.6301025C>T	GRCh38
NC_000004.11:g.6302752C>T , CM000666.1:g.6302752C>T	GRCh37
NC_000004.10:g.6353653C>T	NCBI36
NG_011700.1:g.36176C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1266C>T	ENSP00000507852.1:p.Leu422=
ENST00000683395.1:c.1207C>T
ENST00000684087.1:c.1230C>T	ENSP00000506978.1:p.Leu410=
ENST00000506362.2:c.981C>T	ENSP00000424103.2:p.Leu327=
ENST00000673642.1:c.889C>T	ENSP00000501242.1:p.Leu297Phe
ENST00000673991.1:c.1266C>T	ENSP00000501033.1:p.Leu422=
ENST00000226760.5:c.1230C>T MANE Select	ENSP00000226760.1:p.Leu410=
ENST00000503569.5:c.1230C>T	ENSP00000423337.1:p.Leu410=
ENST00000507765.1:n.1415C>T
NM_001145853.1:c.1230C>T	NP_001139325.1:p.Leu410=
NM_006005.3:c.1230C>T MANE Select	NP_005996.2:p.Leu410=
XM_017008586.1:c.1239C>T	XP_016864075.1:p.Leu413=