Canonical Allele Identifier: CA114133
Gene: VWF HGNC NCBI

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)
ERepo: CA114133/MONDO:0019565/090
PubMed: PMID:1672694 PMID:20409624
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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
Search 100 bp 5'
Search 100 bp 3'