Canonical Allele Identifier: CA114135

Gene: VWF

Linked Data

• ClinVar Variation Id: 294
• ClinVar RCV Id: RCV000000318 ; RCV000086606 ; RCV000851745 ; RCV002227436 ; RCV002264633
• dbSNP Id: rs61748477
• gnomAD v2: 12-6153527-G-A
• gnomAD v3: 12-6044361-G-A
• gnomAD v4: 12-6044361-G-A
• MyVariant Identifiers: chr12:g.6153527G>A (hg19) ; chr12:g.6044361G>A (hg38)
• PubMed: PMID:1906179 ; PMID:2018834 ; PMID:2104761 ; PMID:8500791 ; PMID:20409624

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6044361G>A , CM000674.2:g.6044361G>A	GRCh38
NC_000012.11:g.6153527G>A , CM000674.1:g.6153527G>A	GRCh37
NC_000012.10:g.6023788G>A	NCBI36
NG_009072.1:g.85310C>T
NG_009072.2:g.85310C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261405.10:c.2372C>T MANE Select	ENSP00000261405.5:p.Thr791Met
ENST00000261405.9:c.2372C>T	ENSP00000261405.5:p.Thr791Met
ENST00000538635.5:n.421-50427C>T
NM_000552.3:c.2372C>T	NP_000543.2:p.Thr791Met
NM_000552.4:c.2372C>T	NP_000543.2:p.Thr791Met
NM_000552.5:c.2372C>T MANE Select	NP_000543.3:p.Thr791Met