Canonical Allele Identifier: CA646925
Gene: ALDH4A1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.18875465C>G
GRCh37 chr1:g.19201959C>G
gnomAD v2:
1:19201959 C / G
gnomAD v3:
1:18875465 C / G
gnomAD v4:
chr1-18875465-C-G
Joint Max Group AF 0.00094516 (NFE)
Genomes Max Group AF 0.00035415 (NFE)
Exomes Max Group AF 0.00097416 (NFE)
ClinVar RCV:
RCV000870521
ClinVar Variation:
294370
dbSNP:
146222625
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.18875465C>G , CM000663.2:g.18875465C>G GRCh38
NC_000001.10:g.19201959C>G , CM000663.1:g.19201959C>G GRCh37
NC_000001.9:g.19074546C>G NCBI36
NG_012283.1:g.32335G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375341.8:c.1377G>C MANE Select ENSP00000364490.3:p.Pro459=
ENST00000290597.9:c.1377G>C ENSP00000290597.5:p.Pro459=
ENST00000375341.7:c.1377G>C ENSP00000364490.3:p.Pro459=
ENST00000494072.3:c.2429G>C
ENST00000538309.5:c.1197G>C ENSP00000442988.1:p.Pro399=
ENST00000538839.5:c.1224G>C ENSP00000446071.1:p.Pro408=
NM_001161504.1:c.1197G>C NP_001154976.1:p.Pro399=
NM_003748.3:c.1377G>C NP_003739.2:p.Pro459=
NM_170726.2:c.1377G>C NP_733844.1:p.Pro459=
XM_011542352.1:c.1224G>C XP_011540654.1:p.Pro408=
XM_011542353.1:c.*46G>C XP_011540655.1:n.*46G>C
XR_946786.1:n.1246G>C
NM_001319218.1:c.1224G>C NP_001306147.1:p.Pro408=
XR_001737510.1:n.1093G>C
NM_003748.4:c.1377G>C MANE Select NP_003739.2:p.Pro459=
NM_170726.3:c.1377G>C NP_733844.1:p.Pro459=
NM_001161504.2:c.1197G>C NP_001154976.1:p.Pro399=
NM_001319218.2:c.1224G>C NP_001306147.1:p.Pro408=
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