Canonical Allele Identifier: CA119216
Gene: ABCA3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8014
ClinVar RCV Id: RCV000008478
dbSNP Id: rs28936691

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278016T>G , CM000678.2:g.2278016T>G GRCh38
NC_000016.9:g.2328017T>G , CM000678.1:g.2328017T>G GRCh37
NC_000016.8:g.2268018T>G NCBI36
NG_011790.1:g.67731A>C

Transcript Alleles

HGVS Amino-acid change
NM_001089.2:c.4772A>C VV NP_001080.2:p.Gln1591Pro
NM_001089.3:c.4772A>C VV MANE Preferred NP_001080.2:p.Gln1591Pro
ENST00000301732.9:c.4772A>C ENSP00000301732.5:p.Gln1591Pro
ENST00000382381.7:c.4598A>C ENSP00000371818.3:p.Gln1533Pro