Canonical Allele Identifier: CA2013872546
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018501C= , CM000674.2:g.6018501C= GRCh38
NC_000012.11:g.6127667C= , CM000674.1:g.6127667C= GRCh37
NC_000012.10:g.5997928C= NCBI36
NG_009072.1:g.111170G=
NG_009072.2:g.111170G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.4917G= MANE Select ENSP00000261405.5:p.Leu1639=
ENST00000261405.9:c.4917G= ENSP00000261405.5:p.Leu1639=
ENST00000538635.5:n.421-24567G=
NM_000552.3:c.4917G= NP_000543.2:p.Leu1639=
NM_000552.4:c.4917G= NP_000543.2:p.Leu1639=
NM_000552.5:c.4917G= MANE Select NP_000543.3:p.Leu1639=