Canonical Allele Identifier: CA10608601

Gene: ALDH4A1

Linked Data

• ClinVar Variation Id: 294348
• ClinVar RCV Id: RCV000289967
• dbSNP Id: rs886045704
• gnomAD v3: 1-18872155-C-T
• gnomAD v4: 1-18872155-C-T
• MyVariant Identifiers: chr1:g.19198649C>T (hg19) ; chr1:g.18872155C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.18872155C>T , CM000663.2:g.18872155C>T	GRCh38
NC_000001.10:g.19198649C>T , CM000663.1:g.19198649C>T	GRCh37
NC_000001.9:g.19071236C>T	NCBI36
NG_012283.1:g.35645G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375341.8:c.*690G>A MANE Select	ENSP00000364490.3:n.*690G>A
ENST00000290597.9:c.*42-365G>A	ENSP00000290597.5:n.*42-365G>A
ENST00000375341.7:c.*690G>A	ENSP00000364490.3:n.*690G>A
ENST00000494072.3:c.2631+2308G>A
ENST00000538839.5:c.*690G>A	ENSP00000446071.1:n.*690G>A
NM_001161504.1:c.*690G>A	NP_001154976.1:n.*690G>A
NM_003748.3:c.*690G>A	NP_003739.2:n.*690G>A
NM_170726.2:c.*42-365G>A	NP_733844.1:n.*42-365G>A
XM_011542352.1:c.*690G>A	XP_011540654.1:n.*690G>A
XR_946786.1:n.2251G>A
NM_001319218.1:c.*690G>A	NP_001306147.1:n.*690G>A
XR_001737510.1:n.2098G>A
NM_003748.4:c.*690G>A MANE Select	NP_003739.2:n.*690G>A
NM_170726.3:c.*42-365G>A	NP_733844.1:n.*42-365G>A
NM_001161504.2:c.*690G>A	NP_001154976.1:n.*690G>A
NM_001319218.2:c.*690G>A	NP_001306147.1:n.*690G>A