Canonical Allele Identifier: CA202650

Gene: VWF

Linked Data

• ClinVar Variation Id: 100436
• ClinVar RCV Id: RCV000086848 ; RCV000177861 ; RCV000400661 ; RCV002243747 ; RCV002243749 ; RCV002243748
• dbSNP Id: rs61750615
• ExAC: 12:6103650 G / A
• gnomAD v2: 12-6103650-G-A
• gnomAD v3: 12-5994484-G-A
• gnomAD v4: 12-5994484-G-A
• MyVariant Identifiers: chr12:g.6103650G>A (hg19) ; chr12:g.5994484G>A (hg38)
• ERepo: CA202650/MONDO:0019565/090
• PubMed: PMID:17190853 ; PMID:19566550 ; PMID:23354996 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5994484G>A , CM000674.2:g.5994484G>A	GRCh38
NC_000012.11:g.6103650G>A , CM000674.1:g.6103650G>A	GRCh37
NC_000012.10:g.5973911G>A	NCBI36
NG_009072.1:g.135187C>T
NG_009072.2:g.135187C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.6187C>T MANE Select	ENSP00000261405.5:p.Pro2063Ser
ENST00000261405.9:c.6187C>T	ENSP00000261405.5:p.Pro2063Ser
ENST00000538635.5:n.421-550C>T
NM_000552.3:c.6187C>T	NP_000543.2:p.Pro2063Ser
NM_000552.4:c.6187C>T	NP_000543.2:p.Pro2063Ser
NM_000552.5:c.6187C>T MANE Select	NP_000543.3:p.Pro2063Ser