Canonical Allele Identifier: CA394343399
Gene: ABCA3 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.2317661A>T
GRCh37 chr16:g.2367662A>T
Revel Score:
ENST00000301732 (MANE Select) 0.839
ENST00000382381 0.839
gnomAD v3:
16:2317661 A / T
gnomAD v4:
chr16-2317661-A-T
Joint Max Group AF 0.00000443 (AFR)
Genomes Max Group AF 0.000008 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2317661A>T , CM000678.2:g.2317661A>T GRCh38
NC_000016.9:g.2367662A>T , CM000678.1:g.2367662A>T GRCh37
NC_000016.8:g.2307663A>T NCBI36
NG_011790.1:g.28086T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.977T>A MANE Select ENSP00000301732.5:p.Leu326His
ENST00000301732.9:c.977T>A ENSP00000301732.5:p.Leu326His
ENST00000382381.7:c.977T>A ENSP00000371818.3:p.Leu326His
ENST00000563623.5:n.1540T>A
NM_001089.2:c.977T>A NP_001080.2:p.Leu326His
NM_001089.3:c.977T>A MANE Select NP_001080.2:p.Leu326His
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