Canonical Allele Identifier: CA114133

Gene: VWF

Linked Data

• ClinVar Variation Id: 293
• ClinVar RCV Id: RCV000000317 ; RCV000756907 ; RCV000851940 ; RCV001270629 ; RCV002243606 ; RCV003234883 ; RCV003447466 ; RCV004547444
• dbSNP Id: rs1800382
• ExAC: 12:6128388 C / T
• gnomAD v2: 12-6128388-C-T
• gnomAD v3: 12-6019222-C-T
• gnomAD v4: 12-6019222-C-T
• MyVariant Identifiers: chr12:g.6128388C>T (hg19) ; chr12:g.6019222C>T (hg38)
• PubMed: PMID:1672694 ; PMID:20409624
• ERepo: CA114133/MONDO:0019565/090

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019222C>T , CM000674.2:g.6019222C>T	GRCh38
NC_000012.11:g.6128388C>T , CM000674.1:g.6128388C>T	GRCh37
NC_000012.10:g.5998649C>T	NCBI36
NG_009072.1:g.110449G>A
NG_009072.2:g.110449G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.4196G>A MANE Select	ENSP00000261405.5:p.Arg1399His
ENST00000261405.9:c.4196G>A	ENSP00000261405.5:p.Arg1399His
ENST00000538635.5:n.421-25288G>A
NM_000552.3:c.4196G>A	NP_000543.2:p.Arg1399His
NM_000552.4:c.4196G>A	NP_000543.2:p.Arg1399His
NM_000552.5:c.4196G>A MANE Select	NP_000543.3:p.Arg1399His