Canonical Allele Identifier: CA228316

Gene: VWF

Linked Data

• ClinVar Variation Id: 31011
• ClinVar RCV Id: RCV000024003 ; RCV000086595
• dbSNP Id: rs61748467
• ExAC: 12:6155891 C / T
• gnomAD v2: 12-6155891-C-T
• gnomAD v3: 12-6046725-C-T
• gnomAD v4: 12-6046725-C-T
• MyVariant Identifiers: chr12:g.6155891C>T (hg19) ; chr12:g.6046725C>T (hg38)
• PubMed: PMID:19687512

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6046725C>T , CM000674.2:g.6046725C>T	GRCh38
NC_000012.11:g.6155891C>T , CM000674.1:g.6155891C>T	GRCh37
NC_000012.10:g.6026152C>T	NCBI36
NG_009072.1:g.82946G>A
NG_009072.2:g.82946G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2279G>A MANE Select	ENSP00000261405.5:p.Arg760His
ENST00000261405.9:c.2279G>A	ENSP00000261405.5:p.Arg760His
ENST00000538635.5:n.421-52791G>A
NM_000552.3:c.2279G>A	NP_000543.2:p.Arg760His
NM_000552.4:c.2279G>A	NP_000543.2:p.Arg760His
NM_000552.5:c.2279G>A MANE Select	NP_000543.3:p.Arg760His