Canonical Allele Identifier: CA6403016
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 439329
ClinVar RCV Id: RCV000508470 RCV001821421 RCV003925500
dbSNP Id: rs34510401
ExAC: 12:6143953 C / A
gnomAD v2: 12-6143953-C-A
gnomAD v3: 12-6034787-C-A
gnomAD v4: 12-6034787-C-A
MyVariant Identifiers: chr12:g.6143953C>A (hg19) chr12:g.6034787C>A (hg38)
PubMed: PMID:23648131
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6034787C>A , CM000674.2:g.6034787C>A GRCh38
NC_000012.11:g.6143953C>A , CM000674.1:g.6143953C>A GRCh37
NC_000012.10:g.6014214C>A NCBI36
NG_009072.1:g.94884G>T
NG_009072.2:g.94884G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.2586G>T MANE Select ENSP00000261405.5:p.Val862=
ENST00000261405.9:c.2586G>T ENSP00000261405.5:p.Val862=
ENST00000538635.5:n.421-40853G>T
NM_000552.3:c.2586G>T NP_000543.2:p.Val862=
NM_000552.4:c.2586G>T NP_000543.2:p.Val862=
NM_000552.5:c.2586G>T MANE Select NP_000543.3:p.Val862=
Search 100 bp 5'
Search 100 bp 3'