Canonical Allele Identifier: CA478502373
Gene: VWF HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6128563G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019397G>T , CM000674.2:g.6019397G>T GRCh38
NC_000012.11:g.6128563G>T , CM000674.1:g.6128563G>T GRCh37
NC_000012.10:g.5998824G>T NCBI36
NG_009072.1:g.110274C>A
NG_009072.2:g.110274C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.4021C>A MANE Select ENSP00000261405.5:p.Arg1341=
ENST00000261405.9:c.4021C>A ENSP00000261405.5:p.Arg1341=
ENST00000538635.5:n.421-25463C>A
NM_000552.3:c.4021C>A NP_000543.2:p.Arg1341=
NM_000552.4:c.4021C>A NP_000543.2:p.Arg1341=
NM_000552.5:c.4021C>A MANE Select NP_000543.3:p.Arg1341=