Canonical Allele Identifier: CA944317636
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1944056595
gnomAD v3: 12-6016303-C-T
gnomAD v4: 12-6016303-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6016303C>T , CM000674.2:g.6016303C>T GRCh38
NC_000012.11:g.6125469C>T , CM000674.1:g.6125469C>T GRCh37
NC_000012.10:g.5995730C>T NCBI36
NG_009072.1:g.113368G>A
NG_009072.2:g.113368G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5312-71G>A MANE Select ENSP00000261405.5:n.5312-71G>A
ENST00000261405.9:c.5312-71G>A ENSP00000261405.5:n.5312-71G>A
ENST00000538635.5:n.421-22369G>A
NM_000552.3:c.5312-71G>A NP_000543.2:n.5312-71G>A
NM_000552.4:c.5312-71G>A NP_000543.2:n.5312-71G>A
NM_000552.5:c.5312-71G>A MANE Select NP_000543.3:n.5312-71G>A
Search 100 bp 5'
Search 100 bp 3'