Canonical Allele Identifier: CA2013872495
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018395G= , CM000674.2:g.6018395G= GRCh38
NC_000012.11:g.6127561G= , CM000674.1:g.6127561G= GRCh37
NC_000012.10:g.5997822G= NCBI36
NG_009072.1:g.111276C=
NG_009072.2:g.111276C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5023C= MANE Select ENSP00000261405.5:p.Leu1675=
ENST00000261405.9:c.5023C= ENSP00000261405.5:p.Leu1675=
ENST00000538635.5:n.421-24461C=
NM_000552.3:c.5023C= NP_000543.2:p.Leu1675=
NM_000552.4:c.5023C= NP_000543.2:p.Leu1675=
NM_000552.5:c.5023C= MANE Select NP_000543.3:p.Leu1675=