Canonical Allele Identifier: CA383517839
Gene: VWF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6031530T>G , CM000674.2:g.6031530T>G GRCh38
NC_000012.11:g.6140696T>G , CM000674.1:g.6140696T>G GRCh37
NC_000012.10:g.6010957T>G NCBI36
NG_009072.1:g.98141A>C
NG_009072.2:g.98141A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2734A>C MANE Select ENSP00000261405.5:p.Lys912Gln
ENST00000261405.9:c.2734A>C ENSP00000261405.5:p.Lys912Gln
ENST00000538635.5:n.421-37596A>C
NM_000552.3:c.2734A>C NP_000543.2:p.Lys912Gln
NM_000552.4:c.2734A>C NP_000543.2:p.Lys912Gln
NM_000552.5:c.2734A>C MANE Select NP_000543.3:p.Lys912Gln