Canonical Allele Identifier: CA228575

Gene: VWF

Linked Data

• ClinVar Variation Id: 100347
• ClinVar RCV Id: RCV000086752 ; RCV002243741
• dbSNP Id: rs61750084
• gnomAD v2: 12-6128275-C-T
• gnomAD v3: 12-6019109-C-T
• gnomAD v4: 12-6019109-C-T
• MyVariant Identifiers: chr12:g.6128275C>T (hg19) ; chr12:g.6019109C>T (hg38)
• PubMed: PMID:11325649 ; PMID:19506361 ; PMID:22315491 ; PMID:25185554 ; PMID:27889474

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019109C>T , CM000674.2:g.6019109C>T	GRCh38
NC_000012.11:g.6128275C>T , CM000674.1:g.6128275C>T	GRCh37
NC_000012.10:g.5998536C>T	NCBI36
NG_009072.1:g.110562G>A
NG_009072.2:g.110562G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.4309G>A MANE Select	ENSP00000261405.5:p.Ala1437Thr
ENST00000261405.9:c.4309G>A	ENSP00000261405.5:p.Ala1437Thr
ENST00000538635.5:n.421-25175G>A
NM_000552.3:c.4309G>A	NP_000543.2:p.Ala1437Thr
NM_000552.4:c.4309G>A	NP_000543.2:p.Ala1437Thr
NM_000552.5:c.4309G>A MANE Select	NP_000543.3:p.Ala1437Thr