Canonical Allele Identifier: CA114127
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 290
dbSNP Id: rs61749397

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019472C>T , CM000674.2:g.6019472C>T GRCh38
NC_000012.11:g.6128638C>T , CM000674.1:g.6128638C>T GRCh37
NC_000012.10:g.5998899C>T NCBI36
NG_009072.1:g.110199G>A
NG_009072.2:g.110199G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3946G>A MANE Select ENSP00000261405.5:p.Val1316Met
ENST00000261405.9:c.3946G>A ENSP00000261405.5:p.Val1316Met
ENST00000538635.5:n.421-25538G>A
NM_000552.3:c.3946G>A NP_000543.2:p.Val1316Met
NM_000552.4:c.3946G>A NP_000543.2:p.Val1316Met
NM_000552.5:c.3946G>A MANE Select NP_000543.3:p.Val1316Met