Canonical Allele Identifier: CA2013872959
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019402T= , CM000674.2:g.6019402T= GRCh38
NC_000012.11:g.6128568T= , CM000674.1:g.6128568T= GRCh37
NC_000012.10:g.5998829T= NCBI36
NG_009072.1:g.110269A=
NG_009072.2:g.110269A=

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.4016A= MANE Select ENSP00000261405.5:p.Glu1339=
ENST00000261405.9:c.4016A= ENSP00000261405.5:p.Glu1339=
ENST00000538635.5:n.421-25468A=
NM_000552.3:c.4016A= NP_000543.2:p.Glu1339=
NM_000552.4:c.4016A= NP_000543.2:p.Glu1339=
NM_000552.5:c.4016A= MANE Select NP_000543.3:p.Glu1339=