Canonical Allele Identifier: CA228539

Gene: VWF

Linked Data

• ClinVar Variation Id: 100329
• ClinVar RCV Id: RCV000086734 ; RCV000678770 ; RCV002222016
• dbSNP Id: rs61750071
• ExAC: 12:6128464 G / A
• gnomAD v2: 12-6128464-G-A
• gnomAD v3: 12-6019298-G-A
• gnomAD v4: 12-6019298-G-A
• MyVariant Identifiers: chr12:g.6128464G>A (hg19) ; chr12:g.6019298G>A (hg38)
• PubMed: PMID:11150026 ; PMID:16247740 ; PMID:16985174 ; PMID:19277422 ; PMID:21534937 ; PMID:22473027 ; PMID:23340442

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019298G>A , CM000674.2:g.6019298G>A	GRCh38
NC_000012.11:g.6128464G>A , CM000674.1:g.6128464G>A	GRCh37
NC_000012.10:g.5998725G>A	NCBI36
NG_009072.1:g.110373C>T
NG_009072.2:g.110373C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.4120C>T MANE Select	ENSP00000261405.5:p.Arg1374Cys
ENST00000261405.9:c.4120C>T	ENSP00000261405.5:p.Arg1374Cys
ENST00000538635.5:n.421-25364C>T
NM_000552.3:c.4120C>T	NP_000543.2:p.Arg1374Cys
NM_000552.4:c.4120C>T	NP_000543.2:p.Arg1374Cys
NM_000552.5:c.4120C>T MANE Select	NP_000543.3:p.Arg1374Cys