Canonical Allele Identifier: CA232297980
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 2468677
ClinVar RCV Id: RCV003207200
dbSNP Id: rs1014100882
gnomAD v2: 12-6131129-C-T
gnomAD v3: 12-6021963-C-T
gnomAD v4: 12-6021963-C-T
MyVariant Identifiers: chr12:g.6131129C>T (hg19) chr12:g.6021963C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6021963C>T , CM000674.2:g.6021963C>T GRCh38
NC_000012.11:g.6131129C>T , CM000674.1:g.6131129C>T GRCh37
NC_000012.10:g.6001390C>T NCBI36
NG_009072.1:g.107708G>A
NG_009072.2:g.107708G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3611G>A MANE Select ENSP00000261405.5:p.Arg1204Gln
ENST00000261405.9:c.3611G>A ENSP00000261405.5:p.Arg1204Gln
ENST00000538635.5:n.421-28029G>A
NM_000552.3:c.3611G>A NP_000543.2:p.Arg1204Gln
NM_000552.4:c.3611G>A NP_000543.2:p.Arg1204Gln
NM_000552.5:c.3611G>A MANE Select NP_000543.3:p.Arg1204Gln
Search 100 bp 5'
Search 100 bp 3'