Canonical Allele Identifier: CA6403810
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 256677
ClinVar RCV Id: RCV000246724 RCV000382333 RCV002272194 RCV002244012
dbSNP Id: rs76505074
ExAC: 12:6219681 C / T
gnomAD v2: 12-6219681-C-T
gnomAD v3: 12-6110515-C-T
gnomAD v4: 12-6110515-C-T
MyVariant Identifiers: chr12:g.6219681C>T (hg19) chr12:g.6110515C>T (hg38)
ERepo: CA6403810/MONDO:0019565/090
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6110515C>T , CM000674.2:g.6110515C>T GRCh38
NC_000012.11:g.6219681C>T , CM000674.1:g.6219681C>T GRCh37
NC_000012.10:g.6089942C>T NCBI36
NG_009072.1:g.19156G>A
NG_009072.2:g.19156G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.391G>A MANE Select ENSP00000261405.5:p.Gly131Ser
ENST00000261405.9:c.391G>A ENSP00000261405.5:p.Gly131Ser
ENST00000321023.5:c.*450G>A ENSP00000461331.1:n.*450G>A
ENST00000538635.5:n.420G>A
NM_000552.3:c.391G>A NP_000543.2:p.Gly131Ser
NM_000552.4:c.391G>A NP_000543.2:p.Gly131Ser
NM_000552.5:c.391G>A MANE Select NP_000543.3:p.Gly131Ser
Search 100 bp 5'
Search 100 bp 3'