Canonical Allele Identifier: CA114147

Gene: VWF

Linked Data

• ClinVar Variation Id: 300
• ClinVar RCV Id: RCV000000327 ; RCV000086716 ; RCV003447468
• dbSNP Id: rs61749398
• ExAC: 12:6128614 C / T
• gnomAD v2: 12-6128614-C-T
• gnomAD v3: 12-6019448-C-T
• gnomAD v4: 12-6019448-C-T
• MyVariant Identifiers: chr12:g.6128614C>T (hg19) ; chr12:g.6019448C>T (hg38)
• ERepo: CA114147/MONDO:0015630/081
• PubMed: PMID:1409710 ; PMID:2557900 ; PMID:6426499 ; PMID:20409624

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019448C>T , CM000674.2:g.6019448C>T	GRCh38
NC_000012.11:g.6128614C>T , CM000674.1:g.6128614C>T	GRCh37
NC_000012.10:g.5998875C>T	NCBI36
NG_009072.1:g.110223G>A
NG_009072.2:g.110223G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3970G>A MANE Select	ENSP00000261405.5:p.Gly1324Ser
ENST00000261405.9:c.3970G>A	ENSP00000261405.5:p.Gly1324Ser
ENST00000538635.5:n.421-25514G>A
NM_000552.3:c.3970G>A	NP_000543.2:p.Gly1324Ser
NM_000552.4:c.3970G>A	NP_000543.2:p.Gly1324Ser
NM_000552.5:c.3970G>A MANE Select	NP_000543.3:p.Gly1324Ser