Canonical Allele Identifier: CA313199

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 204846
• ClinVar RCV Id: RCV000186743
• dbSNP Id: rs760266177
• ExAC: 5:125887763 T / C
• gnomAD v2: 5-125887763-T-C
• gnomAD v3: 5-126552071-T-C
• gnomAD v4: 5-126552071-T-C
• MyVariant Identifiers: chr5:g.125887763T>C (hg19) ; chr5:g.126552071T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552071T>C , CM000667.2:g.126552071T>C	GRCh38
NC_000005.9:g.125887763T>C , CM000667.1:g.125887763T>C	GRCh37
NC_000005.8:g.125915662T>C	NCBI36
NG_008600.2:g.48320A>G
NG_008600.3:g.48320A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1267A>G MANE Select	ENSP00000387123.3:p.Ile423Val
ENST00000458249.6:c.*1176A>G	ENSP00000403929.1:n.*1176A>G
ENST00000497231.7:n.1694A>G
ENST00000503281.6:c.856A>G
ENST00000635851.1:c.1265A>G
ENST00000636062.1:n.1162A>G
ENST00000636225.1:c.*1211A>G	ENSP00000490797.1:n.*1211A>G
ENST00000636286.1:n.985A>G
ENST00000636482.1:n.754A>G
ENST00000636743.1:c.1147A>G	ENSP00000489725.1:p.Ile383Val
ENST00000636808.1:c.*1076A>G	ENSP00000490833.1:n.*1076A>G
ENST00000636872.1:c.1427A>G	ENSP00000490919.1:n.1427A>G
ENST00000636879.1:c.1312A>G	ENSP00000490811.1:p.Ile438Val
ENST00000636886.1:c.1066A>G	ENSP00000490371.1:p.Ile356Val
ENST00000637206.1:c.1087A>G	ENSP00000489895.1:p.Ile363Val
ENST00000637272.1:c.1258A>G	ENSP00000489686.1:p.Ile420Val
ENST00000637292.1:c.774-1778A>G
ENST00000637782.1:c.1267A>G	ENSP00000490024.1:p.Ile423Val
ENST00000638008.1:c.*1111A>G	ENSP00000490400.1:n.*1111A>G
ENST00000638010.1:n.1213A>G
ENST00000409134.7:c.1267A>G	ENSP00000387123.3:p.Ile423Val
ENST00000447989.6:c.1156A>G	ENSP00000414132.2:p.Ile386Val
ENST00000476328.1:n.32A>G
ENST00000497231.6:n.1477A>G
ENST00000503281.5:c.856A>G
ENST00000553117.5:c.1075A>G	ENSP00000448593.1:p.Ile359Val
NM_001182.4:c.1267A>G	NP_001173.2:p.Ile423Val
NM_001201377.1:c.1183A>G	NP_001188306.1:p.Ile395Val
NM_001202404.1:c.1156A>G	NP_001189333.1:p.Ile386Val
XM_011543417.1:c.862A>G	XP_011541719.1:p.Ile288Val
XM_011543417.2:c.862A>G	XP_011541719.1:p.Ile288Val
NM_001182.5:c.1267A>G MANE Select	NP_001173.2:p.Ile423Val
NM_001201377.2:c.1183A>G	NP_001188306.1:p.Ile395Val
NM_001202404.2:c.1075A>G	NP_001189333.2:p.Ile359Val