Canonical Allele Identifier: CA6402440
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 2682117
ClinVar RCV Id: RCV003477409
dbSNP Id: rs146596289
ExAC: 12:6127667 C / T
gnomAD v2: 12-6127667-C-T
gnomAD v3: 12-6018501-C-T
gnomAD v4: 12-6018501-C-T
MyVariant Identifiers: chr12:g.6127667C>T (hg19) chr12:g.6018501C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018501C>T , CM000674.2:g.6018501C>T GRCh38
NC_000012.11:g.6127667C>T , CM000674.1:g.6127667C>T GRCh37
NC_000012.10:g.5997928C>T NCBI36
NG_009072.1:g.111170G>A
NG_009072.2:g.111170G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.4917G>A MANE Select ENSP00000261405.5:p.Leu1639=
ENST00000261405.9:c.4917G>A ENSP00000261405.5:p.Leu1639=
ENST00000538635.5:n.421-24567G>A
NM_000552.3:c.4917G>A NP_000543.2:p.Leu1639=
NM_000552.4:c.4917G>A NP_000543.2:p.Leu1639=
NM_000552.5:c.4917G>A MANE Select NP_000543.3:p.Leu1639=
Search 100 bp 5'
Search 100 bp 3'