Canonical Allele Identifier: CA91796225

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1195529
• ClinVar RCV Id: RCV001558648
• dbSNP Id: rs969150051
• gnomAD v2: 4-6302594-G-C
• gnomAD v3: 4-6300867-G-C
• gnomAD v4: 4-6300867-G-C
• MyVariant Identifiers: chr4:g.6302594G>C (hg19) ; chr4:g.6300867G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300867G>C , CM000666.2:g.6300867G>C	GRCh38
NC_000004.11:g.6302594G>C , CM000666.1:g.6302594G>C	GRCh37
NC_000004.10:g.6353495G>C	NCBI36
NG_011700.1:g.36018G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1108G>C	ENSP00000507852.1:p.Val370Leu
ENST00000683395.1:c.1049G>C
ENST00000684087.1:c.1072G>C	ENSP00000506978.1:p.Val358Leu
ENST00000506362.2:c.823G>C	ENSP00000424103.2:p.Val275Leu
ENST00000673642.1:c.731G>C	ENSP00000501242.1:p.Gly244Ala
ENST00000673991.1:c.1108G>C	ENSP00000501033.1:p.Val370Leu
ENST00000226760.5:c.1072G>C MANE Select	ENSP00000226760.1:p.Val358Leu
ENST00000503569.5:c.1072G>C	ENSP00000423337.1:p.Val358Leu
ENST00000506362.1:c.705G>C
ENST00000507765.1:n.1257G>C
NM_001145853.1:c.1072G>C	NP_001139325.1:p.Val358Leu
NM_006005.3:c.1072G>C MANE Select	NP_005996.2:p.Val358Leu
XM_017008586.1:c.1081G>C	XP_016864075.1:p.Val361Leu