Canonical Allele Identifier: CA228692
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100412
ClinVar RCV Id: RCV000086822 RCV002243744
dbSNP Id: rs61750596
MyVariant Identifiers: chr12:g.6127590A>T (hg19) chr12:g.6018424A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018424A>T , CM000674.2:g.6018424A>T GRCh38
NC_000012.11:g.6127590A>T , CM000674.1:g.6127590A>T GRCh37
NC_000012.10:g.5997851A>T NCBI36
NG_009072.1:g.111247T>A
NG_009072.2:g.111247T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.4994T>A MANE Select ENSP00000261405.5:p.Val1665Glu
ENST00000261405.9:c.4994T>A ENSP00000261405.5:p.Val1665Glu
ENST00000538635.5:n.421-24490T>A
NM_000552.3:c.4994T>A NP_000543.2:p.Val1665Glu
NM_000552.4:c.4994T>A NP_000543.2:p.Val1665Glu
NM_000552.5:c.4994T>A MANE Select NP_000543.3:p.Val1665Glu
Search 100 bp 5'
Search 100 bp 3'