Canonical Allele Identifier: CA647085

Gene: ALDH4A1

Linked Data

• ClinVar Variation Id: 294381
• ClinVar RCV Id: RCV000877952 ; RCV003920190
• dbSNP Id: rs145243354
• ExAC: 1:19203974 T / C
• gnomAD v2: 1-19203974-T-C
• gnomAD v3: 1-18877480-T-C
• gnomAD v4: 1-18877480-T-C
• COSMIC: COSM677429 ; COSM1146107
• MyVariant Identifiers: chr1:g.19203974T>C (hg19) ; chr1:g.18877480T>C (hg38)

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