Canonical Allele Identifier: CA203885

Gene: ABCA3

Linked Data

• ClinVar Variation Id: 203381
• ClinVar RCV Id: RCV000185556 ; RCV000224775 ; RCV000615487 ; RCV000735281 ; RCV002284194 ; RCV002372142
• dbSNP Id: rs149989682
• ExAC: 16:2367764 T / A
• gnomAD v2: 16-2367764-T-A
• gnomAD v3: 16-2317763-T-A
• gnomAD v4: 16-2317763-T-A
• MyVariant Identifiers: chr16:g.2367764T>A (hg19) ; chr16:g.2317763T>A (hg38)
• PubMed: PMID:15976379 ; PMID:17597647 ; PMID:18246475 ; PMID:18317237 ; PMID:18603241 ; PMID:18676873 ; PMID:22304854 ; PMID:22435821 ; PMID:22800827 ; PMID:22866751 ; PMID:23166334 ; PMID:23891399 ; PMID:24136335 ; PMID:24871971 ; PMID:25073622 ; PMID:25553246

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2317763T>A , CM000678.2:g.2317763T>A	GRCh38
NC_000016.9:g.2367764T>A , CM000678.1:g.2367764T>A	GRCh37
NC_000016.8:g.2307765T>A	NCBI36
NG_011790.1:g.27984A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.875A>T MANE Select	ENSP00000301732.5:p.Glu292Val
ENST00000301732.9:c.875A>T	ENSP00000301732.5:p.Glu292Val
ENST00000382381.7:c.875A>T	ENSP00000371818.3:p.Glu292Val
ENST00000563623.5:n.1438A>T
NM_001089.2:c.875A>T	NP_001080.2:p.Glu292Val
NM_001089.3:c.875A>T MANE Select	NP_001080.2:p.Glu292Val