Canonical Allele Identifier: CA6401423

Gene: VWF

Linked Data

• ClinVar Variation Id: 372760
• ClinVar RCV Id: RCV000413262 ; RCV000851890 ; RCV000986090 ; RCV000778372 ; RCV001270575 ; RCV002280878
• dbSNP Id: rs149834874
• ExAC: 12:6061684 C / G
• gnomAD v2: 12-6061684-C-G
• gnomAD v3: 12-5952518-C-G
• gnomAD v4: 12-5952518-C-G
• MyVariant Identifiers: chr12:g.6061684C>G (hg19) ; chr12:g.5952518C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5952518C>G , CM000674.2:g.5952518C>G	GRCh38
NC_000012.11:g.6061684C>G , CM000674.1:g.6061684C>G	GRCh37
NC_000012.10:g.5931945C>G	NCBI36
NG_009072.1:g.177153G>C
NG_009072.2:g.177153G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.7988G>C MANE Select	ENSP00000261405.5:p.Arg2663Pro
ENST00000261405.9:c.7988G>C	ENSP00000261405.5:p.Arg2663Pro
ENST00000612016.1:n.397G>C
ENST00000621700.1:n.306G>C
NM_000552.3:c.7988G>C	NP_000543.2:p.Arg2663Pro
NM_000552.4:c.7988G>C	NP_000543.2:p.Arg2663Pro
NM_000552.5:c.7988G>C MANE Select	NP_000543.3:p.Arg2663Pro