Canonical Allele Identifier: CA230306580

Gene: VWA5A

Linked Data

• dbSNP Id: rs1046155803
• gnomAD v2: 11-124017394-C-G
• gnomAD v3: 11-124146687-C-G
• gnomAD v4: 11-124146687-C-G
• MyVariant Identifiers: chr11:g.124017394C>G (hg19) ; chr11:g.124146687C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124146687C>G , CM000673.2:g.124146687C>G	GRCh38
NC_000011.9:g.124017394C>G , CM000673.1:g.124017394C>G	GRCh37
NC_000011.8:g.123522604C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000456829.7:c.*742C>G MANE Select	ENSP00000407726.2:n.*742C>G
ENST00000392748.5:c.*742C>G	ENSP00000376504.1:n.*742C>G
ENST00000456829.6:c.*742C>G	ENSP00000407726.2:n.*742C>G
NM_001130142.1:c.*742C>G	NP_001123614.1:n.*742C>G
NM_014622.4:c.*742C>G	NP_055437.2:n.*742C>G
XM_011542828.1:c.*742C>G	XP_011541130.1:n.*742C>G
XM_011542828.2:c.*742C>G	XP_011541130.1:n.*742C>G
NM_001130142.2:c.*742C>G MANE Select	NP_001123614.1:n.*742C>G
NM_014622.5:c.*742C>G	NP_055437.2:n.*742C>G