Canonical Allele Identifier: CA383495764
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 2429680
ClinVar RCV Id: RCV003127134
gnomAD v4: 12-6016227-C-T
MyVariant Identifiers: chr12:g.6125393C>T (hg19) chr12:g.6016227C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6016227C>T , CM000674.2:g.6016227C>T GRCh38
NC_000012.11:g.6125393C>T , CM000674.1:g.6125393C>T GRCh37
NC_000012.10:g.5995654C>T NCBI36
NG_009072.1:g.113444G>A
NG_009072.2:g.113444G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5317G>A MANE Select ENSP00000261405.5:p.Ala1773Thr
ENST00000261405.9:c.5317G>A ENSP00000261405.5:p.Ala1773Thr
ENST00000538635.5:n.421-22293G>A
NM_000552.3:c.5317G>A NP_000543.2:p.Ala1773Thr
NM_000552.4:c.5317G>A NP_000543.2:p.Ala1773Thr
NM_000552.5:c.5317G>A MANE Select NP_000543.3:p.Ala1773Thr
Search 100 bp 5'
Search 100 bp 3'