Canonical Allele Identifier: CA383512353
Gene: VWF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023787C>A , CM000674.2:g.6023787C>A GRCh38
NC_000012.11:g.6132953C>A , CM000674.1:g.6132953C>A GRCh37
NC_000012.10:g.6003214C>A NCBI36
NG_009072.1:g.105884G>T
NG_009072.2:g.105884G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3223G>T MANE Select ENSP00000261405.5:p.Val1075Leu
ENST00000261405.9:c.3223G>T ENSP00000261405.5:p.Val1075Leu
ENST00000538635.5:n.421-29853G>T
NM_000552.3:c.3223G>T NP_000543.2:p.Val1075Leu
NM_000552.4:c.3223G>T NP_000543.2:p.Val1075Leu
NM_000552.5:c.3223G>T MANE Select NP_000543.3:p.Val1075Leu