Canonical Allele Identifier: CA228504

Gene: VWF

Linked Data

• ClinVar Variation Id: 100311
• ClinVar RCV Id: RCV000086713 ; RCV003333732 ; RCV002466429
• dbSNP Id: rs61749396
• ExAC: 12:6128640 C / T
• gnomAD v2: 12-6128640-C-T
• gnomAD v3: 12-6019474-C-T
• gnomAD v4: 12-6019474-C-T
• MyVariant Identifiers: chr12:g.6128640C>T (hg19) ; chr12:g.6019474C>T (hg38)
• ERepo: CA228504/MONDO:0015630/081
• PubMed: PMID:16985174 ; PMID:17090649 ; PMID:18315556 ; PMID:18647226 ; PMID:19453940 ; PMID:26986123

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019474C>T , CM000674.2:g.6019474C>T	GRCh38
NC_000012.11:g.6128640C>T , CM000674.1:g.6128640C>T	GRCh37
NC_000012.10:g.5998901C>T	NCBI36
NG_009072.1:g.110197G>A
NG_009072.2:g.110197G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3944G>A MANE Select	ENSP00000261405.5:p.Arg1315His
ENST00000261405.9:c.3944G>A	ENSP00000261405.5:p.Arg1315His
ENST00000538635.5:n.421-25540G>A
NM_000552.3:c.3944G>A	NP_000543.2:p.Arg1315His
NM_000552.4:c.3944G>A	NP_000543.2:p.Arg1315His
NM_000552.5:c.3944G>A MANE Select	NP_000543.3:p.Arg1315His