Canonical Allele Identifier: CA228786

Gene: VWF

Linked Data

• ClinVar Variation Id: 100467
• ClinVar RCV Id: RCV000086880 ; RCV000778374 ; RCV001270490 ; RCV002264670
• dbSNP Id: rs61751286
• ExAC: 12:6085324 G / A
• gnomAD v2: 12-6085324-G-A
• gnomAD v3: 12-5976158-G-A
• gnomAD v4: 12-5976158-G-A
• COSMIC: COSM4949822
• MyVariant Identifiers: chr12:g.6085324G>A (hg19) ; chr12:g.5976158G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5976158G>A , CM000674.2:g.5976158G>A	GRCh38
NC_000012.11:g.6085324G>A , CM000674.1:g.6085324G>A	GRCh37
NC_000012.10:g.5955585G>A	NCBI36
NG_009072.1:g.153513C>T
NG_009072.2:g.153513C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.7390C>T MANE Select	ENSP00000261405.5:p.Arg2464Cys
ENST00000261405.9:c.7390C>T	ENSP00000261405.5:p.Arg2464Cys
NM_000552.3:c.7390C>T	NP_000543.2:p.Arg2464Cys
NM_000552.4:c.7390C>T	NP_000543.2:p.Arg2464Cys
NM_000552.5:c.7390C>T MANE Select	NP_000543.3:p.Arg2464Cys