Canonical Allele Identifier: CA6402763
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 310071
ClinVar RCV Id: RCV000334547
dbSNP Id: rs374393996
ExAC: 12:6132785 G / A
gnomAD v2: 12-6132785-G-A
gnomAD v3: 12-6023619-G-A
gnomAD v4: 12-6023619-G-A
MyVariant Identifiers: chr12:g.6132785G>A (hg19) chr12:g.6023619G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023619G>A , CM000674.2:g.6023619G>A GRCh38
NC_000012.11:g.6132785G>A , CM000674.1:g.6132785G>A GRCh37
NC_000012.10:g.6003046G>A NCBI36
NG_009072.1:g.106052C>T
NG_009072.2:g.106052C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3379+12C>T MANE Select ENSP00000261405.5:n.3379+12C>T
ENST00000261405.9:c.3379+12C>T ENSP00000261405.5:n.3379+12C>T
ENST00000538635.5:n.421-29685C>T
NM_000552.3:c.3379+12C>T NP_000543.2:n.3379+12C>T
NM_000552.4:c.3379+12C>T NP_000543.2:n.3379+12C>T
NM_000552.5:c.3379+12C>T MANE Select NP_000543.3:n.3379+12C>T
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