Canonical Allele Identifier: CA7840309

Gene: ABCA3

Linked Data

• ClinVar Variation Id: 318402
• ClinVar RCV Id: RCV000315299 ; RCV002520994 ; RCV003155158 ; RCV002356427 ; RCV003950084
• dbSNP Id: rs149871856
• ExAC: 16:2333210 C / T
• gnomAD v2: 16-2333210-C-T
• gnomAD v3: 16-2283209-C-T
• gnomAD v4: 16-2283209-C-T
• COSMIC: COSM4059368
• MyVariant Identifiers: chr16:g.2333210C>T (hg19) ; chr16:g.2283209C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2283209C>T , CM000678.2:g.2283209C>T	GRCh38
NC_000016.9:g.2333210C>T , CM000678.1:g.2333210C>T	GRCh37
NC_000016.8:g.2273211C>T	NCBI36
NG_011790.1:g.62538G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4012G>A MANE Select	ENSP00000301732.5:p.Ala1338Thr
ENST00000301732.9:c.4012G>A	ENSP00000301732.5:p.Ala1338Thr
ENST00000382381.7:c.3838G>A	ENSP00000371818.3:p.Ala1280Thr
ENST00000566200.1:n.533G>A
ENST00000569062.1:n.764G>A
NM_001089.2:c.4012G>A	NP_001080.2:p.Ala1338Thr
NM_001089.3:c.4012G>A MANE Select	NP_001080.2:p.Ala1338Thr