Canonical Allele Identifier: CA6401365

Gene: VWF

Linked Data

• ClinVar Variation Id: 310032
• ClinVar RCV Id: RCV000272380 ; RCV004525919 ; RCV004549676
• dbSNP Id: rs368802960
• ExAC: 12:6059045 C / T
• gnomAD v2: 12-6059045-C-T
• gnomAD v3: 12-5949879-C-T
• gnomAD v4: 12-5949879-C-T
• MyVariant Identifiers: chr12:g.6059045C>T (hg19) ; chr12:g.5949879C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5949879C>T , CM000674.2:g.5949879C>T	GRCh38
NC_000012.11:g.6059045C>T , CM000674.1:g.6059045C>T	GRCh37
NC_000012.10:g.5929306C>T	NCBI36
NG_009072.1:g.179792G>A
NG_009072.2:g.179792G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.8160G>A MANE Select	ENSP00000261405.5:p.Glu2720=
ENST00000261405.9:c.8160G>A	ENSP00000261405.5:p.Glu2720=
NM_000552.3:c.8160G>A	NP_000543.2:p.Glu2720=
NM_000552.4:c.8160G>A	NP_000543.2:p.Glu2720=
NM_000552.5:c.8160G>A MANE Select	NP_000543.3:p.Glu2720=