Canonical Allele Identifier: CA228829

Gene: VWF

Linked Data

• ClinVar Variation Id: 100493
• ClinVar RCV Id: RCV000086907 ; RCV003398701 ; RCV003313936
• dbSNP Id: rs61753997
• ExAC: 12:6184558 G / A
• gnomAD v2: 12-6184558-G-A
• gnomAD v3: 12-6075392-G-A
• gnomAD v4: 12-6075392-G-A
• COSMIC: COSM3765663
• MyVariant Identifiers: chr12:g.6184558G>A (hg19) ; chr12:g.6075392G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6075392G>A , CM000674.2:g.6075392G>A	GRCh38
NC_000012.11:g.6184558G>A , CM000674.1:g.6184558G>A	GRCh37
NC_000012.10:g.6054819G>A	NCBI36
NG_009072.1:g.54279C>T
NG_009072.2:g.54279C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.817C>T MANE Select	ENSP00000261405.5:p.Arg273Trp
ENST00000261405.9:c.817C>T	ENSP00000261405.5:p.Arg273Trp
ENST00000538635.5:n.420+35123C>T
NM_000552.3:c.817C>T	NP_000543.2:p.Arg273Trp
NM_000552.4:c.817C>T	NP_000543.2:p.Arg273Trp
NM_000552.5:c.817C>T MANE Select	NP_000543.3:p.Arg273Trp