Canonical Allele Identifier: CA114172

Gene: VWF

Linked Data

• ClinVar Variation Id: 315
• ClinVar RCV Id: RCV000000343 ; RCV000086870
• dbSNP Id: rs61750630
• gnomAD v4: 12-5981988-C-A
• MyVariant Identifiers: chr12:g.6091154C>A (hg19) ; chr12:g.5981988C>A (hg38)
• PubMed: PMID:9569178 ; PMID:16643449

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5981988C>A , CM000674.2:g.5981988C>A	GRCh38
NC_000012.11:g.6091154C>A , CM000674.1:g.6091154C>A	GRCh37
NC_000012.10:g.5961415C>A	NCBI36
NG_009072.1:g.147683G>T
NG_009072.2:g.147683G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.7085G>T MANE Select	ENSP00000261405.5:p.Cys2362Phe
ENST00000261405.9:c.7085G>T	ENSP00000261405.5:p.Cys2362Phe
NM_000552.3:c.7085G>T	NP_000543.2:p.Cys2362Phe
NM_000552.4:c.7085G>T	NP_000543.2:p.Cys2362Phe
NM_000552.5:c.7085G>T MANE Select	NP_000543.3:p.Cys2362Phe