Canonical Allele Identifier: CA228398

Gene: VWF

Linked Data

• ClinVar Variation Id: 100257
• ClinVar RCV Id: RCV000086650 ; RCV000851637 ; RCV001787052
• dbSNP Id: rs2363337
• ExAC: 12:6132796 C / T
• gnomAD v2: 12-6132796-C-T
• gnomAD v3: 12-6023630-C-T
• gnomAD v4: 12-6023630-C-T
• MyVariant Identifiers: chr12:g.6132796C>T (hg19) ; chr12:g.6023630C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6023630C>T , CM000674.2:g.6023630C>T	GRCh38
NC_000012.11:g.6132796C>T , CM000674.1:g.6132796C>T	GRCh37
NC_000012.10:g.6003057C>T	NCBI36
NG_009072.1:g.106041G>A
NG_009072.2:g.106041G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3379+1G>A MANE Select	ENSP00000261405.5:n.3379+1G>A
ENST00000261405.9:c.3379+1G>A	ENSP00000261405.5:n.3379+1G>A
ENST00000538635.5:n.421-29696G>A
NM_000552.3:c.3379+1G>A	NP_000543.2:n.3379+1G>A
NM_000552.4:c.3379+1G>A	NP_000543.2:n.3379+1G>A
NM_000552.5:c.3379+1G>A MANE Select	NP_000543.3:n.3379+1G>A