Canonical Allele Identifier: CA228351

Gene: VWF

Linked Data

• ClinVar Variation Id: 100228
• ClinVar RCV Id: RCV000086619 ; RCV001787049 ; RCV004017399
• dbSNP Id: rs61748482
• ExAC: 12:6143979 G / A
• gnomAD v2: 12-6143979-G-A
• gnomAD v3: 12-6034813-G-A
• gnomAD v4: 12-6034813-G-A
• MyVariant Identifiers: chr12:g.6143979G>A (hg19) ; chr12:g.6034813G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6034813G>A , CM000674.2:g.6034813G>A	GRCh38
NC_000012.11:g.6143979G>A , CM000674.1:g.6143979G>A	GRCh37
NC_000012.10:g.6014240G>A	NCBI36
NG_009072.1:g.94858C>T
NG_009072.2:g.94858C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2560C>T MANE Select	ENSP00000261405.5:p.Arg854Trp
ENST00000261405.9:c.2560C>T	ENSP00000261405.5:p.Arg854Trp
ENST00000538635.5:n.421-40879C>T
NM_000552.3:c.2560C>T	NP_000543.2:p.Arg854Trp
NM_000552.4:c.2560C>T	NP_000543.2:p.Arg854Trp
NM_000552.5:c.2560C>T MANE Select	NP_000543.3:p.Arg854Trp