Canonical Allele Identifier: CA647075
Gene: ALDH4A1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.18877455C>T
GRCh37 chr1:g.19203949C>T
gnomAD v2:
1:19203949 C / T
gnomAD v3:
1:18877455 C / T
gnomAD v4:
chr1-18877455-C-T
Joint Max Group AF 0.00058441 (AMR)
Genomes Max Group AF 0.00055223 (AMR)
Exomes Max Group AF 0.00057244 (NFE)
ClinVar RCV:
RCV000648056
ClinVar Variation:
294378
dbSNP:
147471420
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.18877455C>T , CM000663.2:g.18877455C>T GRCh38
NC_000001.10:g.19203949C>T , CM000663.1:g.19203949C>T GRCh37
NC_000001.9:g.19076536C>T NCBI36
NG_012283.1:g.30345G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375341.8:c.1098G>A MANE Select ENSP00000364490.3:p.Gly366=
ENST00000290597.9:c.1098G>A ENSP00000290597.5:p.Gly366=
ENST00000375341.7:c.1098G>A ENSP00000364490.3:p.Gly366=
ENST00000494072.3:c.2150G>A
ENST00000538309.5:c.918G>A ENSP00000442988.1:p.Gly306=
ENST00000538839.5:c.1098G>A ENSP00000446071.1:p.Gly366=
NM_001161504.1:c.918G>A NP_001154976.1:p.Gly306=
NM_003748.3:c.1098G>A NP_003739.2:p.Gly366=
NM_170726.2:c.1098G>A NP_733844.1:p.Gly366=
XM_011542352.1:c.1098G>A XP_011540654.1:p.Gly366=
XM_011542353.1:c.910G>A XP_011540655.1:p.Ala304Thr
XR_946786.1:n.967G>A
NM_001319218.1:c.1098G>A NP_001306147.1:p.Gly366=
XR_001737510.1:n.967G>A
NM_003748.4:c.1098G>A MANE Select NP_003739.2:p.Gly366=
NM_170726.3:c.1098G>A NP_733844.1:p.Gly366=
NM_001161504.2:c.918G>A NP_001154976.1:p.Gly306=
NM_001319218.2:c.1098G>A NP_001306147.1:p.Gly366=
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