Canonical Allele Identifier: CA228790

Gene: VWF

Linked Data

• ClinVar Variation Id: 100469
• ClinVar RCV Id: RCV000086882 ; RCV000852206 ; RCV001787074
• dbSNP Id: rs61751288
• ExAC: 12:6085306 G / A
• gnomAD v2: 12-6085306-G-A
• gnomAD v4: 12-5976140-G-A
• COSMIC: COSM6073216
• MyVariant Identifiers: chr12:g.6085306G>A (hg19) ; chr12:g.5976140G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5976140G>A , CM000674.2:g.5976140G>A	GRCh38
NC_000012.11:g.6085306G>A , CM000674.1:g.6085306G>A	GRCh37
NC_000012.10:g.5955567G>A	NCBI36
NG_009072.1:g.153531C>T
NG_009072.2:g.153531C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.7408C>T MANE Select	ENSP00000261405.5:p.Gln2470Ter
ENST00000261405.9:c.7408C>T	ENSP00000261405.5:p.Gln2470Ter
NM_000552.3:c.7408C>T	NP_000543.2:p.Gln2470Ter
NM_000552.4:c.7408C>T	NP_000543.2:p.Gln2470Ter
NM_000552.5:c.7408C>T MANE Select	NP_000543.3:p.Gln2470Ter