Canonical Allele Identifier: CA383498371
Gene: VWF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058023T>C , CM000674.2:g.6058023T>C GRCh38
NC_000012.11:g.6167189T>C , CM000674.1:g.6167189T>C GRCh37
NC_000012.10:g.6037450T>C NCBI36
NG_009072.1:g.71648A>G
NG_009072.2:g.71648A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1555A>G MANE Select ENSP00000261405.5:p.Lys519Glu
ENST00000261405.9:c.1555A>G ENSP00000261405.5:p.Lys519Glu
ENST00000538635.5:n.420+52492A>G
NM_000552.3:c.1555A>G NP_000543.2:p.Lys519Glu
NM_000552.4:c.1555A>G NP_000543.2:p.Lys519Glu
NM_000552.5:c.1555A>G MANE Select NP_000543.3:p.Lys519Glu