Canonical Allele Identifier: CA6401320

Gene: VWF

Linked Data

• ClinVar Variation Id: 437264
• ClinVar RCV Id: RCV000500840 ; RCV000756906 ; RCV004551638
• dbSNP Id: rs143743709
• ExAC: 12:6058245 A / G
• gnomAD v2: 12-6058245-A-G
• gnomAD v3: 12-5949079-A-G
• gnomAD v4: 12-5949079-A-G
• MyVariant Identifiers: chr12:g.6058245A>G (hg19) ; chr12:g.5949079A>G (hg38)
• PubMed: PMID:22197721

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5949079A>G , CM000674.2:g.5949079A>G	GRCh38
NC_000012.11:g.6058245A>G , CM000674.1:g.6058245A>G	GRCh37
NC_000012.10:g.5928506A>G	NCBI36
NG_009072.1:g.180592T>C
NG_009072.2:g.180592T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.8378T>C MANE Select	ENSP00000261405.5:p.Val2793Ala
ENST00000261405.9:c.8378T>C	ENSP00000261405.5:p.Val2793Ala
NM_000552.3:c.8378T>C	NP_000543.2:p.Val2793Ala
NM_000552.4:c.8378T>C	NP_000543.2:p.Val2793Ala
NM_000552.5:c.8378T>C MANE Select	NP_000543.3:p.Val2793Ala