Canonical Allele Identifier: CA6402725
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 2682106
ClinVar RCV Id: RCV003477398
dbSNP Id: rs769502210
ExAC: 12:6131130 G / A
gnomAD v2: 12-6131130-G-A
gnomAD v3: 12-6021964-G-A
gnomAD v4: 12-6021964-G-A
MyVariant Identifiers: chr12:g.6131130G>A (hg19) chr12:g.6021964G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6021964G>A , CM000674.2:g.6021964G>A GRCh38
NC_000012.11:g.6131130G>A , CM000674.1:g.6131130G>A GRCh37
NC_000012.10:g.6001391G>A NCBI36
NG_009072.1:g.107707C>T
NG_009072.2:g.107707C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3610C>T MANE Select ENSP00000261405.5:p.Arg1204Trp
ENST00000261405.9:c.3610C>T ENSP00000261405.5:p.Arg1204Trp
ENST00000538635.5:n.421-28030C>T
NM_000552.3:c.3610C>T NP_000543.2:p.Arg1204Trp
NM_000552.4:c.3610C>T NP_000543.2:p.Arg1204Trp
NM_000552.5:c.3610C>T MANE Select NP_000543.3:p.Arg1204Trp
Search 100 bp 5'
Search 100 bp 3'