Canonical Allele Identifier: CA383505319
Gene: VWF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6072388A>T , CM000674.2:g.6072388A>T GRCh38
NC_000012.11:g.6181554A>T , CM000674.1:g.6181554A>T GRCh37
NC_000012.10:g.6051815A>T NCBI36
NG_009072.1:g.57283T>A
NG_009072.2:g.57283T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1052T>A MANE Select ENSP00000261405.5:p.Val351Glu
ENST00000261405.9:c.1052T>A ENSP00000261405.5:p.Val351Glu
ENST00000538635.5:n.420+38127T>A
NM_000552.3:c.1052T>A NP_000543.2:p.Val351Glu
NM_000552.4:c.1052T>A NP_000543.2:p.Val351Glu
NM_000552.5:c.1052T>A MANE Select NP_000543.3:p.Val351Glu