Canonical Allele Identifier: CA114178

Gene: VWF

Linked Data

• ClinVar Variation Id: 318
• ClinVar RCV Id: RCV000000346 ; RCV000086569 ; RCV002243608
• dbSNP Id: rs61754010
• ExAC: 12:6167161 T / C
• gnomAD v2: 12-6167161-T-C
• MyVariant Identifiers: chr12:g.6167161T>C (hg19) ; chr12:g.6057995T>C (hg38)
• ERepo: CA114178/MONDO:0015628/081
• PubMed: PMID:20335223

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6057995T>C , CM000674.2:g.6057995T>C	GRCh38
NC_000012.11:g.6167161T>C , CM000674.1:g.6167161T>C	GRCh37
NC_000012.10:g.6037422T>C	NCBI36
NG_009072.1:g.71676A>G
NG_009072.2:g.71676A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.1583A>G MANE Select	ENSP00000261405.5:p.Asn528Ser
ENST00000261405.9:c.1583A>G	ENSP00000261405.5:p.Asn528Ser
ENST00000538635.5:n.420+52520A>G
NM_000552.3:c.1583A>G	NP_000543.2:p.Asn528Ser
NM_000552.4:c.1583A>G	NP_000543.2:p.Asn528Ser
NM_000552.5:c.1583A>G MANE Select	NP_000543.3:p.Asn528Ser