Canonical Allele Identifier: CA478103011
Gene: VWF HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6143944G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6034778G>C , CM000674.2:g.6034778G>C GRCh38
NC_000012.11:g.6143944G>C , CM000674.1:g.6143944G>C GRCh37
NC_000012.10:g.6014205G>C NCBI36
NG_009072.1:g.94893C>G
NG_009072.2:g.94893C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2595C>G MANE Select ENSP00000261405.5:p.Ala865=
ENST00000261405.9:c.2595C>G ENSP00000261405.5:p.Ala865=
ENST00000538635.5:n.421-40844C>G
NM_000552.3:c.2595C>G NP_000543.2:p.Ala865=
NM_000552.4:c.2595C>G NP_000543.2:p.Ala865=
NM_000552.5:c.2595C>G MANE Select NP_000543.3:p.Ala865=
Search 100 bp 5'
Search 100 bp 3'