Canonical Allele Identifier: CA6402669
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 256674
ClinVar RCV Id: RCV000247036 RCV000760121 RCV002244003 RCV002244004 RCV002244005
dbSNP Id: rs199831474
ExAC: 12:6128795 C / T
gnomAD v2: 12-6128795-C-T
gnomAD v3: 12-6019629-C-T
gnomAD v4: 12-6019629-C-T
MyVariant Identifiers: chr12:g.6128795C>T (hg19) chr12:g.6019629C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019629C>T , CM000674.2:g.6019629C>T GRCh38
NC_000012.11:g.6128795C>T , CM000674.1:g.6128795C>T GRCh37
NC_000012.10:g.5999056C>T NCBI36
NG_009072.1:g.110042G>A
NG_009072.2:g.110042G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3789G>A MANE Select ENSP00000261405.5:p.Ser1263=
ENST00000261405.9:c.3789G>A ENSP00000261405.5:p.Ser1263=
ENST00000538635.5:n.421-25695G>A
ENST00000539641.1:n.587G>A
NM_000552.3:c.3789G>A NP_000543.2:p.Ser1263=
NM_000552.4:c.3789G>A NP_000543.2:p.Ser1263=
NM_000552.5:c.3789G>A MANE Select NP_000543.3:p.Ser1263=
Search 100 bp 5'
Search 100 bp 3'