Canonical Allele Identifier: CA394305536
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1388545
ClinVar RCV Id: RCV001877986
dbSNP Id: rs2141688001

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278312T>C , CM000678.2:g.2278312T>C GRCh38
NC_000016.9:g.2328313T>C , CM000678.1:g.2328313T>C GRCh37
NC_000016.8:g.2268314T>C NCBI36
NG_011790.1:g.67435A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4694A>G MANE Select ENSP00000301732.5:p.Lys1565Arg
ENST00000301732.9:c.4694A>G ENSP00000301732.5:p.Lys1565Arg
ENST00000382381.7:c.4520A>G ENSP00000371818.3:p.Lys1507Arg
ENST00000566200.1:n.1215A>G
NM_001089.2:c.4694A>G NP_001080.2:p.Lys1565Arg
NM_001089.3:c.4694A>G MANE Select NP_001080.2:p.Lys1565Arg