Canonical Allele Identifier: CA6401734

Gene: VWF

Linked Data

• ClinVar Variation Id: 256696
• ClinVar RCV Id: RCV000242710 ; RCV000362780 ; RCV002244052 ; RCV002244054 ; RCV002244053
• dbSNP Id: rs216867
• ExAC: 12:6091000 A / G
• gnomAD v2: 12-6091000-A-G
• gnomAD v3: 12-5981834-A-G
• gnomAD v4: 12-5981834-A-G
• MyVariant Identifiers: chr12:g.6091000A>G (hg19) ; chr12:g.5981834A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5981834A>G , CM000674.2:g.5981834A>G	GRCh38
NC_000012.11:g.6091000A>G , CM000674.1:g.6091000A>G	GRCh37
NC_000012.10:g.5961261A>G	NCBI36
NG_009072.1:g.147837T>C
NG_009072.2:g.147837T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.7239T>C MANE Select	ENSP00000261405.5:p.Thr2413=
ENST00000261405.9:c.7239T>C	ENSP00000261405.5:p.Thr2413=
NM_000552.3:c.7239T>C	NP_000543.2:p.Thr2413=
NM_000552.4:c.7239T>C	NP_000543.2:p.Thr2413=
NM_000552.5:c.7239T>C MANE Select	NP_000543.3:p.Thr2413=