Canonical Allele Identifier: CA228298

Gene: VWF

Linked Data

• ClinVar Variation Id: 100196
• ClinVar RCV Id: RCV000086582 ; RCV000477864 ; RCV000851726 ; RCV003313777
• dbSNP Id: rs61754019
• ExAC: 12:6166046 G / A
• gnomAD v2: 12-6166046-G-A
• gnomAD v3: 12-6056880-G-A
• gnomAD v4: 12-6056880-G-A
• MyVariant Identifiers: chr12:g.6166046G>A (hg19) ; chr12:g.6056880G>A (hg38)
• PubMed: PMID:16985174 ; PMID:18230755 ; PMID:18344424 ; PMID:19506353 ; PMID:22995991

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6056880G>A , CM000674.2:g.6056880G>A	GRCh38
NC_000012.11:g.6166046G>A , CM000674.1:g.6166046G>A	GRCh37
NC_000012.10:g.6036307G>A	NCBI36
NG_009072.1:g.72791C>T
NG_009072.2:g.72791C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.1922C>T MANE Select	ENSP00000261405.5:p.Ala641Val
ENST00000261405.9:c.1922C>T	ENSP00000261405.5:p.Ala641Val
ENST00000538635.5:n.420+53635C>T
NM_000552.3:c.1922C>T	NP_000543.2:p.Ala641Val
NM_000552.4:c.1922C>T	NP_000543.2:p.Ala641Val
NM_000552.5:c.1922C>T MANE Select	NP_000543.3:p.Ala641Val