Canonical Allele Identifier: CA232298857
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs968064757
gnomAD v3: 12-6031375-G-T
gnomAD v4: 12-6031375-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6031375G>T , CM000674.2:g.6031375G>T GRCh38
NC_000012.11:g.6140541G>T , CM000674.1:g.6140541G>T GRCh37
NC_000012.10:g.6010802G>T NCBI36
NG_009072.1:g.98296C>A
NG_009072.2:g.98296C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2820+69C>A MANE Select ENSP00000261405.5:n.2820+69C>A
ENST00000261405.9:c.2820+69C>A ENSP00000261405.5:n.2820+69C>A
ENST00000538635.5:n.421-37441C>A
NM_000552.3:c.2820+69C>A NP_000543.2:n.2820+69C>A
NM_000552.4:c.2820+69C>A NP_000543.2:n.2820+69C>A
NM_000552.5:c.2820+69C>A MANE Select NP_000543.3:n.2820+69C>A