Canonical Allele Identifier: CA647085
Gene: ALDH4A1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.18877480T>C
GRCh37 chr1:g.19203974T>C
Revel Score:
ENST00000290597 0.041
ENST00000375341 (MANE Select) 0.041
ENST00000538839 0.041
ENST00000538309 0.041
gnomAD v2:
1:19203974 T / C
gnomAD v3:
1:18877480 T / C
gnomAD v4:
chr1-18877480-T-C
Joint Max Group AF 0.00008027 (AMR)
Genomes Max Group AF 0.0000226 (AMR)
Exomes Max Group AF 0.00007526 (AMR)
ClinVar RCV:
RCV000877952
RCV003920190
ClinVar Variation:
294381
dbSNP:
145243354
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.18877480T>C , CM000663.2:g.18877480T>C GRCh38
NC_000001.10:g.19203974T>C , CM000663.1:g.19203974T>C GRCh37
NC_000001.9:g.19076561T>C NCBI36
NG_012283.1:g.30320A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375341.8:c.1073A>G MANE Select ENSP00000364490.3:p.His358Arg
ENST00000290597.9:c.1073A>G ENSP00000290597.5:p.His358Arg
ENST00000375341.7:c.1073A>G ENSP00000364490.3:p.His358Arg
ENST00000494072.3:c.2125A>G
ENST00000538309.5:c.893A>G ENSP00000442988.1:p.His298Arg
ENST00000538839.5:c.1073A>G ENSP00000446071.1:p.His358Arg
NM_001161504.1:c.893A>G NP_001154976.1:p.His298Arg
NM_003748.3:c.1073A>G NP_003739.2:p.His358Arg
NM_170726.2:c.1073A>G NP_733844.1:p.His358Arg
XM_011542352.1:c.1073A>G XP_011540654.1:p.His358Arg
XM_011542353.1:c.885A>G XP_011540655.1:p.Ala295=
XR_946786.1:n.942A>G
NM_001319218.1:c.1073A>G NP_001306147.1:p.His358Arg
XR_001737510.1:n.942A>G
NM_003748.4:c.1073A>G MANE Select NP_003739.2:p.His358Arg
NM_170726.3:c.1073A>G NP_733844.1:p.His358Arg
NM_001161504.2:c.893A>G NP_001154976.1:p.His298Arg
NM_001319218.2:c.1073A>G NP_001306147.1:p.His358Arg
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