Canonical Allele Identifier: CA228762

Gene: VWF

Linked Data

• ClinVar Variation Id: 100451
• ClinVar RCV Id: RCV000086863 ; RCV001787069 ; RCV002264669
• dbSNP Id: rs61750626
• gnomAD v4: 12-5985110-C-T
• MyVariant Identifiers: chr12:g.6094276C>T (hg19) ; chr12:g.5985110C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5985110C>T , CM000674.2:g.5985110C>T	GRCh38
NC_000012.11:g.6094276C>T , CM000674.1:g.6094276C>T	GRCh37
NC_000012.10:g.5964537C>T	NCBI36
NG_009072.1:g.144561G>A
NG_009072.2:g.144561G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.6911G>A MANE Select	ENSP00000261405.5:p.Cys2304Tyr
ENST00000261405.9:c.6911G>A	ENSP00000261405.5:p.Cys2304Tyr
NM_000552.3:c.6911G>A	NP_000543.2:p.Cys2304Tyr
NM_000552.4:c.6911G>A	NP_000543.2:p.Cys2304Tyr
NM_000552.5:c.6911G>A MANE Select	NP_000543.3:p.Cys2304Tyr