Canonical Allele Identifier: CA7840583
Gene: ABCA3 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.2286777C>T
GRCh37 chr16:g.2336778C>T
gnomAD v2:
16:2336778 C / T
gnomAD v3:
16:2286777 C / T
gnomAD v4:
chr16-2286777-C-T
Joint Max Group AF 0.00170013 (AFR)
Genomes Max Group AF 0.0018037 (AFR)
Exomes Max Group AF 0.00134856 (AFR)
ClinVar RCV:
RCV000261153
RCV002522832
ClinVar Variation:
318427
dbSNP:
140502726
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2286777C>T , CM000678.2:g.2286777C>T GRCh38
NC_000016.9:g.2336778C>T , CM000678.1:g.2336778C>T GRCh37
NC_000016.8:g.2276779C>T NCBI36
NG_011790.1:g.58970G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.3195G>A MANE Select ENSP00000301732.5:p.Leu1065=
ENST00000301732.9:c.3195G>A ENSP00000301732.5:p.Leu1065=
ENST00000382381.7:c.3021G>A ENSP00000371818.3:p.Leu1007=
NM_001089.2:c.3195G>A NP_001080.2:p.Leu1065=
NM_001089.3:c.3195G>A MANE Select NP_001080.2:p.Leu1065=
Search 100 bp 5'
Search 100 bp 3'