Canonical Allele Identifier: CA2013891982
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6057920C= , CM000674.2:g.6057920C= GRCh38
NC_000012.11:g.6167086C= , CM000674.1:g.6167086C= GRCh37
NC_000012.10:g.6037347C= NCBI36
NG_009072.1:g.71751G=
NG_009072.2:g.71751G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1658G= MANE Select ENSP00000261405.5:p.Trp553=
ENST00000261405.9:c.1658G= ENSP00000261405.5:p.Trp553=
ENST00000538635.5:n.420+52595G=
NM_000552.3:c.1658G= NP_000543.2:p.Trp553=
NM_000552.4:c.1658G= NP_000543.2:p.Trp553=
NM_000552.5:c.1658G= MANE Select NP_000543.3:p.Trp553=