Canonical Allele Identifier: CA228378

Gene: VWF

Linked Data

• ClinVar Variation Id: 100247
• ClinVar RCV Id: RCV000086639 ; RCV003447495
• dbSNP Id: rs61748496
• ExAC: 12:6134809 C / A
• gnomAD v2: 12-6134809-C-A
• gnomAD v4: 12-6025643-C-A
• MyVariant Identifiers: chr12:g.6134809C>A (hg19) ; chr12:g.6025643C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6025643C>A , CM000674.2:g.6025643C>A	GRCh38
NC_000012.11:g.6134809C>A , CM000674.1:g.6134809C>A	GRCh37
NC_000012.10:g.6005070C>A	NCBI36
NG_009072.1:g.104028G>T
NG_009072.2:g.104028G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3159G>T MANE Select	ENSP00000261405.5:p.Gln1053His
ENST00000261405.9:c.3159G>T	ENSP00000261405.5:p.Gln1053His
ENST00000538635.5:n.421-31709G>T
NM_000552.3:c.3159G>T	NP_000543.2:p.Gln1053His
NM_000552.4:c.3159G>T	NP_000543.2:p.Gln1053His
NM_000552.5:c.3159G>T MANE Select	NP_000543.3:p.Gln1053His