Canonical Allele Identifier: CA228541

Gene: VWF

Linked Data

• ClinVar Variation Id: 100330
• ClinVar RCV Id: RCV000086735 ; RCV000626712 ; RCV001093529 ; RCV000851939 ; RCV000852116 ; RCV002264658
• dbSNP Id: rs61750072
• gnomAD v4: 12-6019297-C-T
• COSMIC: COSM1990429
• MyVariant Identifiers: chr12:g.6128463C>T (hg19) ; chr12:g.6019297C>T (hg38)
• PubMed: PMID:7620154 ; PMID:7734373 ; PMID:11776047 ; PMID:16985174 ; PMID:18384353 ; PMID:18805962 ; PMID:19277422 ; PMID:19404524 ; PMID:19951969 ; PMID:21429375 ; PMID:22315491 ; PMID:22329792 ; PMID:22578129 ; PMID:23340442 ; PMID:23349392 ; PMID:25185554 ; PMID:25696906 ; PMID:26200876 ; PMID:26879396

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019297C>T , CM000674.2:g.6019297C>T	GRCh38
NC_000012.11:g.6128463C>T , CM000674.1:g.6128463C>T	GRCh37
NC_000012.10:g.5998724C>T	NCBI36
NG_009072.1:g.110374G>A
NG_009072.2:g.110374G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.4121G>A MANE Select	ENSP00000261405.5:p.Arg1374His
ENST00000261405.9:c.4121G>A	ENSP00000261405.5:p.Arg1374His
ENST00000538635.5:n.421-25363G>A
NM_000552.3:c.4121G>A	NP_000543.2:p.Arg1374His
NM_000552.4:c.4121G>A	NP_000543.2:p.Arg1374His
NM_000552.5:c.4121G>A MANE Select	NP_000543.3:p.Arg1374His