Canonical Allele Identifier: CA478102968
Gene: VWF HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6143890G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6034724G>A , CM000674.2:g.6034724G>A GRCh38
NC_000012.11:g.6143890G>A , CM000674.1:g.6143890G>A GRCh37
NC_000012.10:g.6014151G>A NCBI36
NG_009072.1:g.94947C>T
NG_009072.2:g.94947C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2649C>T MANE Select ENSP00000261405.5:p.Tyr883=
ENST00000261405.9:c.2649C>T ENSP00000261405.5:p.Tyr883=
ENST00000538635.5:n.421-40790C>T
NM_000552.3:c.2649C>T NP_000543.2:p.Tyr883=
NM_000552.4:c.2649C>T NP_000543.2:p.Tyr883=
NM_000552.5:c.2649C>T MANE Select NP_000543.3:p.Tyr883=