Canonical Allele Identifier: CA228482

Gene: VWF

Linked Data

• ClinVar Variation Id: 100300
• ClinVar RCV Id: RCV000086700 ; RCV002243729
• dbSNP Id: rs61749385
• gnomAD v3: 12-6019501-C-T
• gnomAD v4: 12-6019501-C-T
• MyVariant Identifiers: chr12:g.6128667C>T (hg19) ; chr12:g.6019501C>T (hg38)
• PubMed: PMID:9108394 ; PMID:9198195 ; PMID:17598021 ; PMID:18725999 ; PMID:20200350 ; PMID:25185554 ; PMID:25728415

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019501C>T , CM000674.2:g.6019501C>T	GRCh38
NC_000012.11:g.6128667C>T , CM000674.1:g.6128667C>T	GRCh37
NC_000012.10:g.5998928C>T	NCBI36
NG_009072.1:g.110170G>A
NG_009072.2:g.110170G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3917G>A MANE Select	ENSP00000261405.5:p.Arg1306Gln
ENST00000261405.9:c.3917G>A	ENSP00000261405.5:p.Arg1306Gln
ENST00000538635.5:n.421-25567G>A
NM_000552.3:c.3917G>A	NP_000543.2:p.Arg1306Gln
NM_000552.4:c.3917G>A	NP_000543.2:p.Arg1306Gln
NM_000552.5:c.3917G>A MANE Select	NP_000543.3:p.Arg1306Gln