Canonical Allele Identifier: CA478494026
Gene: VWF HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6127670C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018504C>T , CM000674.2:g.6018504C>T GRCh38
NC_000012.11:g.6127670C>T , CM000674.1:g.6127670C>T GRCh37
NC_000012.10:g.5997931C>T NCBI36
NG_009072.1:g.111167G>A
NG_009072.2:g.111167G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.4914G>A MANE Select ENSP00000261405.5:p.Glu1638=
ENST00000261405.9:c.4914G>A ENSP00000261405.5:p.Glu1638=
ENST00000538635.5:n.421-24570G>A
NM_000552.3:c.4914G>A NP_000543.2:p.Glu1638=
NM_000552.4:c.4914G>A NP_000543.2:p.Glu1638=
NM_000552.5:c.4914G>A MANE Select NP_000543.3:p.Glu1638=