Canonical Allele Identifier: CA478101262
Gene: VWF HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6131137C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6021971C>G , CM000674.2:g.6021971C>G GRCh38
NC_000012.11:g.6131137C>G , CM000674.1:g.6131137C>G GRCh37
NC_000012.10:g.6001398C>G NCBI36
NG_009072.1:g.107700G>C
NG_009072.2:g.107700G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3603G>C MANE Select ENSP00000261405.5:p.Val1201=
ENST00000261405.9:c.3603G>C ENSP00000261405.5:p.Val1201=
ENST00000538635.5:n.421-28037G>C
NM_000552.3:c.3603G>C NP_000543.2:p.Val1201=
NM_000552.4:c.3603G>C NP_000543.2:p.Val1201=
NM_000552.5:c.3603G>C MANE Select NP_000543.3:p.Val1201=