Canonical Allele Identifier: CA114160

Gene: VWF

Linked Data

• ClinVar Variation Id: 308
• ClinVar RCV Id: RCV000000335 ; RCV000000336 ; RCV000086666 ; RCV000851598 ; RCV001003906 ; RCV003924787
• dbSNP Id: rs121964895
• gnomAD v4: 12-6021960-C-T
• MyVariant Identifiers: chr12:g.6131126C>T (hg19) ; chr12:g.6021960C>T (hg38)
• PubMed: PMID:3257148 ; PMID:8456430 ; PMID:9253800 ; PMID:10669167 ; PMID:11756169 ; PMID:12043692 ; PMID:14613933 ; PMID:16889557 ; PMID:16925796 ; PMID:17080221 ; PMID:18230755 ; PMID:21346256

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6021960C>T , CM000674.2:g.6021960C>T	GRCh38
NC_000012.11:g.6131126C>T , CM000674.1:g.6131126C>T	GRCh37
NC_000012.10:g.6001387C>T	NCBI36
NG_009072.1:g.107711G>A
NG_009072.2:g.107711G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261405.10:c.3614G>A MANE Select	ENSP00000261405.5:p.Arg1205His
ENST00000261405.9:c.3614G>A	ENSP00000261405.5:p.Arg1205His
ENST00000538635.5:n.421-28026G>A
NM_000552.3:c.3614G>A	NP_000543.2:p.Arg1205His
NM_000552.4:c.3614G>A	NP_000543.2:p.Arg1205His
NM_000552.5:c.3614G>A MANE Select	NP_000543.3:p.Arg1205His