Canonical Allele Identifier: CA2617233708
Gene: VWF HGNC NCBI

Linked Data

gnomAD v4: 12-6072461-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6072461A>G , CM000674.2:g.6072461A>G GRCh38
NC_000012.11:g.6181627A>G , CM000674.1:g.6181627A>G GRCh37
NC_000012.10:g.6051888A>G NCBI36
NG_009072.1:g.57210T>C
NG_009072.2:g.57210T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.998-19T>C MANE Select ENSP00000261405.5:n.998-19T>C
ENST00000261405.9:c.998-19T>C ENSP00000261405.5:n.998-19T>C
ENST00000538635.5:n.420+38054T>C
NM_000552.3:c.998-19T>C NP_000543.2:n.998-19T>C
NM_000552.4:c.998-19T>C NP_000543.2:n.998-19T>C
NM_000552.5:c.998-19T>C MANE Select NP_000543.3:n.998-19T>C