Canonical Allele Identifier: CA7840888
Gene: ABCA3 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.2295736G>A
GRCh37 chr16:g.2345737G>A
gnomAD v2:
16:2345737 G / A
gnomAD v3:
16:2295736 G / A
gnomAD v4:
chr16-2295736-G-A
Joint Max Group AF 0.00570317 (MID)
Genomes Max Group AF 0.00377181 (AMR)
Exomes Max Group AF 0.00584149 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2295736G>A , CM000678.2:g.2295736G>A GRCh38
NC_000016.9:g.2345737G>A , CM000678.1:g.2345737G>A GRCh37
NC_000016.8:g.2285738G>A NCBI36
NG_011790.1:g.50011C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.2268C>T MANE Select ENSP00000301732.5:p.Ala756=
ENST00000301732.9:c.2268C>T ENSP00000301732.5:p.Ala756=
ENST00000382381.7:c.2094C>T ENSP00000371818.3:p.Ala698=
ENST00000563623.5:n.2831C>T
NM_001089.2:c.2268C>T NP_001080.2:p.Ala756=
NM_001089.3:c.2268C>T MANE Select NP_001080.2:p.Ala756=
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