Canonical Allele Identifier: CA6403671
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 310088
ClinVar RCV Id: RCV000277342 RCV000994823 RCV003151022
dbSNP Id: rs776206258
ExAC: 12:6184517 G / A
gnomAD v2: 12-6184517-G-A
gnomAD v3: 12-6075351-G-A
gnomAD v4: 12-6075351-G-A
COSMIC: COSM80745
MyVariant Identifiers: chr12:g.6184517G>A (hg19) chr12:g.6075351G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6075351G>A , CM000674.2:g.6075351G>A GRCh38
NC_000012.11:g.6184517G>A , CM000674.1:g.6184517G>A GRCh37
NC_000012.10:g.6054778G>A NCBI36
NG_009072.1:g.54320C>T
NG_009072.2:g.54320C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.858C>T MANE Select ENSP00000261405.5:p.Thr286=
ENST00000261405.9:c.858C>T ENSP00000261405.5:p.Thr286=
ENST00000538635.5:n.420+35164C>T
NM_000552.3:c.858C>T NP_000543.2:p.Thr286=
NM_000552.4:c.858C>T NP_000543.2:p.Thr286=
NM_000552.5:c.858C>T MANE Select NP_000543.3:p.Thr286=
Search 100 bp 5'
Search 100 bp 3'