Canonical Allele Identifier: CA10609106

Gene: ALDH4A1

Linked Data

• ClinVar Variation Id: 294346
• ClinVar RCV Id: RCV000325202
• dbSNP Id: rs14311
• gnomAD v2: 1-19198627-G-A
• gnomAD v3: 1-18872133-G-A
• gnomAD v4: 1-18872133-G-A
• MyVariant Identifiers: chr1:g.19198627G>A (hg19) ; chr1:g.18872133G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.18872133G>A , CM000663.2:g.18872133G>A	GRCh38
NC_000001.10:g.19198627G>A , CM000663.1:g.19198627G>A	GRCh37
NC_000001.9:g.19071214G>A	NCBI36
NG_012283.1:g.35667C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375341.8:c.*712C>T MANE Select	ENSP00000364490.3:n.*712C>T
ENST00000290597.9:c.*42-343C>T	ENSP00000290597.5:n.*42-343C>T
ENST00000375341.7:c.*712C>T	ENSP00000364490.3:n.*712C>T
ENST00000494072.3:c.2631+2330C>T
ENST00000538839.5:c.*712C>T	ENSP00000446071.1:n.*712C>T
NM_001161504.1:c.*712C>T	NP_001154976.1:n.*712C>T
NM_003748.3:c.*712C>T	NP_003739.2:n.*712C>T
NM_170726.2:c.*42-343C>T	NP_733844.1:n.*42-343C>T
XM_011542352.1:c.*712C>T	XP_011540654.1:n.*712C>T
XR_946786.1:n.2273C>T
NM_001319218.1:c.*712C>T	NP_001306147.1:n.*712C>T
XR_001737510.1:n.2120C>T
NM_003748.4:c.*712C>T MANE Select	NP_003739.2:n.*712C>T
NM_170726.3:c.*42-343C>T	NP_733844.1:n.*42-343C>T
NM_001161504.2:c.*712C>T	NP_001154976.1:n.*712C>T
NM_001319218.2:c.*712C>T	NP_001306147.1:n.*712C>T