Canonical Allele Identifier: CA228846

Gene: VWF

Linked Data

• ClinVar Variation Id: 100502
• ClinVar RCV Id: RCV000086916
• dbSNP Id: rs61751309
• MyVariant Identifiers: chr12:g.6058307del (hg19) ; chr12:g.5949141del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5949142del , CM000674.2:g.5949142del	GRCh38
NC_000012.11:g.6058308del , CM000674.1:g.6058308del	GRCh37
NC_000012.10:g.5928569del	NCBI36
NG_009072.1:g.180530del
NG_009072.2:g.180530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.8316del MANE Select	ENSP00000261405.5:p.Cys2773AlafsTer?
ENST00000261405.9:c.8316del	ENSP00000261405.5:p.Cys2773AlafsTer?
NM_000552.3:c.8316del	NP_000543.2:p.Cys2773AlafsTer?
NM_000552.4:c.8316del	NP_000543.2:p.Cys2773AlafsTer?
NM_000552.5:c.8316del MANE Select	NP_000543.3:p.Cys2773AlafsTer?