Canonical Allele Identifier: CA6401921

Gene: VWF

Linked Data

• ClinVar Variation Id: 310050
• ClinVar RCV Id: RCV000385378 ; RCV001820915 ; RCV003389643 ; RCV004549677
• dbSNP Id: rs71581020
• ExAC: 12:6101027 C / T
• gnomAD v2: 12-6101027-C-T
• gnomAD v3: 12-5991861-C-T
• gnomAD v4: 12-5991861-C-T
• MyVariant Identifiers: chr12:g.6101027C>T (hg19) ; chr12:g.5991861C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5991861C>T , CM000674.2:g.5991861C>T	GRCh38
NC_000012.11:g.6101027C>T , CM000674.1:g.6101027C>T	GRCh37
NC_000012.10:g.5971288C>T	NCBI36
NG_009072.1:g.137810G>A
NG_009072.2:g.137810G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.6756G>A MANE Select	ENSP00000261405.5:p.Glu2252=
ENST00000261405.9:c.6756G>A	ENSP00000261405.5:p.Glu2252=
NM_000552.3:c.6756G>A	NP_000543.2:p.Glu2252=
NM_000552.4:c.6756G>A	NP_000543.2:p.Glu2252=
NM_000552.5:c.6756G>A MANE Select	NP_000543.3:p.Glu2252=