Canonical Allele Identifier: CA6402765
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 256666
ClinVar RCV Id: RCV000254545 RCV000395662 RCV000760117 RCV002243985 RCV002243987 RCV002243986
dbSNP Id: rs113446850
ExAC: 12:6132790 T / G
gnomAD v2: 12-6132790-T-G
gnomAD v3: 12-6023624-T-G
gnomAD v4: 12-6023624-T-G
MyVariant Identifiers: chr12:g.6132790T>G (hg19) chr12:g.6023624T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023624T>G , CM000674.2:g.6023624T>G GRCh38
NC_000012.11:g.6132790T>G , CM000674.1:g.6132790T>G GRCh37
NC_000012.10:g.6003051T>G NCBI36
NG_009072.1:g.106047A>C
NG_009072.2:g.106047A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3379+7A>C MANE Select ENSP00000261405.5:n.3379+7A>C
ENST00000261405.9:c.3379+7A>C ENSP00000261405.5:n.3379+7A>C
ENST00000538635.5:n.421-29690A>C
NM_000552.3:c.3379+7A>C NP_000543.2:n.3379+7A>C
NM_000552.4:c.3379+7A>C NP_000543.2:n.3379+7A>C
NM_000552.5:c.3379+7A>C MANE Select NP_000543.3:n.3379+7A>C
Search 100 bp 5'
Search 100 bp 3'