Canonical Allele Identifier: CA7840316
Gene: ABCA3 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.2283237C>A
GRCh37 chr16:g.2333238C>A
gnomAD v2:
16:2333238 C / A
gnomAD v3:
16:2283237 C / A
gnomAD v4:
chr16-2283237-C-A
Joint Max Group AF 0.00736101 (EAS)
Genomes Max Group AF 0.00351938 (EAS)
Exomes Max Group AF 0.00769476 (EAS)
ClinVar RCV:
RCV000353813
RCV002056482
ClinVar Variation:
318403
dbSNP:
149050142
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2283237C>A , CM000678.2:g.2283237C>A GRCh38
NC_000016.9:g.2333238C>A , CM000678.1:g.2333238C>A GRCh37
NC_000016.8:g.2273239C>A NCBI36
NG_011790.1:g.62510G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.3984G>T MANE Select ENSP00000301732.5:p.Leu1328=
ENST00000301732.9:c.3984G>T ENSP00000301732.5:p.Leu1328=
ENST00000382381.7:c.3810G>T ENSP00000371818.3:p.Leu1270=
ENST00000566200.1:n.505G>T
ENST00000569062.1:n.736G>T
NM_001089.2:c.3984G>T NP_001080.2:p.Leu1328=
NM_001089.3:c.3984G>T MANE Select NP_001080.2:p.Leu1328=
Search 100 bp 5'
Search 100 bp 3'