Canonical Allele Identifier: CA295797

Gene: WFS1

Linked Data

• ClinVar Variation Id: 137915
• ClinVar RCV Id: RCV000155409 ; RCV000273823 ; RCV000368428 ; RCV000865310 ; RCV002505090 ; RCV003126506
• dbSNP Id: rs71524361
• ExAC: 4:6303319 C / A
• gnomAD v2: 4-6303319-C-A
• gnomAD v3: 4-6301592-C-A
• gnomAD v4: 4-6301592-C-A
• MyVariant Identifiers: chr4:g.6303319C>A (hg19) ; chr4:g.6301592C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301592C>A , CM000666.2:g.6301592C>A	GRCh38
NC_000004.11:g.6303319C>A , CM000666.1:g.6303319C>A	GRCh37
NC_000004.10:g.6354220C>A	NCBI36
NG_011700.1:g.36743C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1833C>A	ENSP00000507852.1:p.Val611=
ENST00000683395.1:c.1774C>A
ENST00000684087.1:c.1797C>A	ENSP00000506978.1:p.Val599=
ENST00000506362.2:c.1548C>A	ENSP00000424103.2:p.Val516=
ENST00000673642.1:c.1456C>A	ENSP00000501242.1:n.1456C>A
ENST00000673991.1:c.1833C>A	ENSP00000501033.1:p.Val611=
ENST00000226760.5:c.1797C>A MANE Select	ENSP00000226760.1:p.Val599=
ENST00000503569.5:c.1797C>A	ENSP00000423337.1:p.Val599=
ENST00000507765.1:n.1982C>A
NM_001145853.1:c.1797C>A	NP_001139325.1:p.Val599=
NM_006005.3:c.1797C>A MANE Select	NP_005996.2:p.Val599=
XM_017008586.1:c.1806C>A	XP_016864075.1:p.Val602=