Canonical Allele Identifier: CA2013872547
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018502A= , CM000674.2:g.6018502A= GRCh38
NC_000012.11:g.6127668A= , CM000674.1:g.6127668A= GRCh37
NC_000012.10:g.5997929A= NCBI36
NG_009072.1:g.111169T=
NG_009072.2:g.111169T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.4916T= MANE Select ENSP00000261405.5:p.Leu1639=
ENST00000261405.9:c.4916T= ENSP00000261405.5:p.Leu1639=
ENST00000538635.5:n.421-24568T=
NM_000552.3:c.4916T= NP_000543.2:p.Leu1639=
NM_000552.4:c.4916T= NP_000543.2:p.Leu1639=
NM_000552.5:c.4916T= MANE Select NP_000543.3:p.Leu1639=