Canonical Allele Identifier: CA647275

Gene: ALDH4A1

Linked Data

• ClinVar Variation Id: 294384
• ClinVar RCV Id: RCV000555982 ; RCV001089326 ; RCV003920191
• dbSNP Id: rs138788183
• ExAC: 1:19209615 C / T
• gnomAD v2: 1-19209615-C-T
• gnomAD v3: 1-18883121-C-T
• gnomAD v4: 1-18883121-C-T
• MyVariant Identifiers: chr1:g.19209615C>T (hg19) ; chr1:g.18883121C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.18883121C>T , CM000663.2:g.18883121C>T	GRCh38
NC_000001.10:g.19209615C>T , CM000663.1:g.19209615C>T	GRCh37
NC_000001.9:g.19082202C>T	NCBI36
NG_012283.1:g.24679G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375341.8:c.678+3G>A MANE Select	ENSP00000364490.3:n.678+3G>A
ENST00000290597.9:c.678+3G>A	ENSP00000290597.5:n.678+3G>A
ENST00000375341.7:c.678+3G>A	ENSP00000364490.3:n.678+3G>A
ENST00000432718.1:c.633G>A	ENSP00000393209.1:p.Val211=
ENST00000454547.1:n.372+3G>A
ENST00000494072.3:c.1730+3G>A
ENST00000538309.5:c.498+3G>A	ENSP00000442988.1:n.498+3G>A
ENST00000538839.5:c.678+3G>A	ENSP00000446071.1:n.678+3G>A
NM_001161504.1:c.498+3G>A	NP_001154976.1:n.498+3G>A
NM_003748.3:c.678+3G>A	NP_003739.2:n.678+3G>A
NM_170726.2:c.678+3G>A	NP_733844.1:n.678+3G>A
XM_011542352.1:c.678+3G>A	XP_011540654.1:n.678+3G>A
XM_011542353.1:c.678+3G>A	XP_011540655.1:n.678+3G>A
XR_946786.1:n.735+3G>A
NM_001319218.1:c.678+3G>A	NP_001306147.1:n.678+3G>A
XR_001737510.1:n.735+3G>A
NM_003748.4:c.678+3G>A MANE Select	NP_003739.2:n.678+3G>A
NM_170726.3:c.678+3G>A	NP_733844.1:n.678+3G>A
NM_001161504.2:c.498+3G>A	NP_001154976.1:n.498+3G>A
NM_001319218.2:c.678+3G>A	NP_001306147.1:n.678+3G>A