Canonical Allele Identifier: CA6401485

Gene: VWF

Linked Data

• ClinVar Variation Id: 256701
• ClinVar RCV Id: RCV000284400 ; RCV000251911 ; RCV002274956
• dbSNP Id: rs55687637
• ExAC: 12:6076640 A / G
• gnomAD v2: 12-6076640-A-G
• gnomAD v3: 12-5967474-A-G
• gnomAD v4: 12-5967474-A-G
• MyVariant Identifiers: chr12:g.6076640A>G (hg19) ; chr12:g.5967474A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5967474A>G , CM000674.2:g.5967474A>G	GRCh38
NC_000012.11:g.6076640A>G , CM000674.1:g.6076640A>G	GRCh37
NC_000012.10:g.5946901A>G	NCBI36
NG_009072.1:g.162197T>C
NG_009072.2:g.162197T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.7887+12T>C MANE Select	ENSP00000261405.5:n.7887+12T>C
ENST00000261405.9:c.7887+12T>C	ENSP00000261405.5:n.7887+12T>C
ENST00000621700.1:n.205+12T>C
NM_000552.3:c.7887+12T>C	NP_000543.2:n.7887+12T>C
NM_000552.4:c.7887+12T>C	NP_000543.2:n.7887+12T>C
NM_000552.5:c.7887+12T>C MANE Select	NP_000543.3:n.7887+12T>C