Canonical Allele Identifier: CA228702

Gene: VWF

Linked Data

• ClinVar Variation Id: 100418
• ClinVar RCV Id: RCV000086828 ; RCV001110727 ; RCV001787062 ; RCV001804838 ; RCV002264665
• dbSNP Id: rs61750601
• ExAC: 12:6125910 G / A
• gnomAD v2: 12-6125910-G-A
• gnomAD v3: 12-6016744-G-A
• gnomAD v4: 12-6016744-G-A
• MyVariant Identifiers: chr12:g.6125910G>A (hg19) ; chr12:g.6016744G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6016744G>A , CM000674.2:g.6016744G>A	GRCh38
NC_000012.11:g.6125910G>A , CM000674.1:g.6125910G>A	GRCh37
NC_000012.10:g.5996171G>A	NCBI36
NG_009072.1:g.112927C>T
NG_009072.2:g.112927C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.5170+10C>T MANE Select	ENSP00000261405.5:n.5170+10C>T
ENST00000261405.9:c.5170+10C>T	ENSP00000261405.5:n.5170+10C>T
ENST00000538635.5:n.421-22810C>T
NM_000552.3:c.5170+10C>T	NP_000543.2:n.5170+10C>T
NM_000552.4:c.5170+10C>T	NP_000543.2:n.5170+10C>T
NM_000552.5:c.5170+10C>T MANE Select	NP_000543.3:n.5170+10C>T