Canonical Allele Identifier: CA383517803
Gene: VWF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6031524A>G , CM000674.2:g.6031524A>G GRCh38
NC_000012.11:g.6140690A>G , CM000674.1:g.6140690A>G GRCh37
NC_000012.10:g.6010951A>G NCBI36
NG_009072.1:g.98147T>C
NG_009072.2:g.98147T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2740T>C MANE Select ENSP00000261405.5:p.Cys914Arg
ENST00000261405.9:c.2740T>C ENSP00000261405.5:p.Cys914Arg
ENST00000538635.5:n.421-37590T>C
NM_000552.3:c.2740T>C NP_000543.2:p.Cys914Arg
NM_000552.4:c.2740T>C NP_000543.2:p.Cys914Arg
NM_000552.5:c.2740T>C MANE Select NP_000543.3:p.Cys914Arg