Canonical Allele Identifier: CA228823
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100489
ClinVar RCV Id: RCV000086903
dbSNP Id: rs62641243
gnomAD v4: 12-5952428-C-T
MyVariant Identifiers: chr12:g.6061594C>T (hg19) chr12:g.5952428C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5952428C>T , CM000674.2:g.5952428C>T GRCh38
NC_000012.11:g.6061594C>T , CM000674.1:g.6061594C>T GRCh37
NC_000012.10:g.5931855C>T NCBI36
NG_009072.1:g.177243G>A
NG_009072.2:g.177243G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.8078G>A MANE Select ENSP00000261405.5:p.Cys2693Tyr
ENST00000261405.9:c.8078G>A ENSP00000261405.5:p.Cys2693Tyr
ENST00000612016.1:n.487G>A
ENST00000621700.1:n.396G>A
NM_000552.3:c.8078G>A NP_000543.2:p.Cys2693Tyr
NM_000552.4:c.8078G>A NP_000543.2:p.Cys2693Tyr
NM_000552.5:c.8078G>A MANE Select NP_000543.3:p.Cys2693Tyr
Search 100 bp 5'
Search 100 bp 3'