Canonical Allele Identifier: CA114119
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 286
dbSNP Id: rs61750579

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018598A>T , CM000674.2:g.6018598A>T GRCh38
NC_000012.11:g.6127764A>T , CM000674.1:g.6127764A>T GRCh37
NC_000012.10:g.5998025A>T NCBI36
NG_009072.1:g.111073T>A
NG_009072.2:g.111073T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.4820T>A MANE Select ENSP00000261405.5:p.Val1607Asp
ENST00000261405.9:c.4820T>A ENSP00000261405.5:p.Val1607Asp
ENST00000538635.5:n.421-24664T>A
NM_000552.3:c.4820T>A NP_000543.2:p.Val1607Asp
NM_000552.4:c.4820T>A NP_000543.2:p.Val1607Asp
NM_000552.5:c.4820T>A MANE Select NP_000543.3:p.Val1607Asp