Canonical Allele Identifier: CA14275029
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1194796
ClinVar RCV Id: RCV001557666
dbSNP Id: rs73500154
gnomAD v2: 16-2328146-G-C
gnomAD v3: 16-2278145-G-C
gnomAD v4: 16-2278145-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278145G>C , CM000678.2:g.2278145G>C GRCh38
NC_000016.9:g.2328146G>C , CM000678.1:g.2328146G>C GRCh37
NC_000016.8:g.2268147G>C NCBI36
NG_011790.1:g.67602C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4719-76C>G MANE Select ENSP00000301732.5:n.4719-76C>G
ENST00000301732.9:c.4719-76C>G ENSP00000301732.5:n.4719-76C>G
ENST00000382381.7:c.4545-76C>G ENSP00000371818.3:n.4545-76C>G
NM_001089.2:c.4719-76C>G NP_001080.2:n.4719-76C>G
NM_001089.3:c.4719-76C>G MANE Select NP_001080.2:n.4719-76C>G