Canonical Allele Identifier: CA228502

Gene: VWF

Linked Data

• ClinVar Variation Id: 100310
• ClinVar RCV Id: RCV000086712 ; RCV000851600 ; RCV002243732 ; RCV002264655 ; RCV004549529
• dbSNP Id: rs61749395
• gnomAD v4: 12-6019475-G-A
• COSMIC: COSM1704940
• MyVariant Identifiers: chr12:g.6128641G>A (hg19) ; chr12:g.6019475G>A (hg38)
• PubMed: PMID:9723578 ; PMID:11159522 ; PMID:17190853

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019475G>A , CM000674.2:g.6019475G>A	GRCh38
NC_000012.11:g.6128641G>A , CM000674.1:g.6128641G>A	GRCh37
NC_000012.10:g.5998902G>A	NCBI36
NG_009072.1:g.110196C>T
NG_009072.2:g.110196C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3943C>T MANE Select	ENSP00000261405.5:p.Arg1315Cys
ENST00000261405.9:c.3943C>T	ENSP00000261405.5:p.Arg1315Cys
ENST00000538635.5:n.421-25541C>T
NM_000552.3:c.3943C>T	NP_000543.2:p.Arg1315Cys
NM_000552.4:c.3943C>T	NP_000543.2:p.Arg1315Cys
NM_000552.5:c.3943C>T MANE Select	NP_000543.3:p.Arg1315Cys