Canonical Allele Identifier: CA115666
Gene: COX4I2 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.31644800G>A
GRCh37 chr20:g.30232603G>A
Revel Score:
ENST00000376075 (MANE Select) 0.672
gnomAD v2:
20:30232603 G / A
gnomAD v3:
20:31644800 G / A
gnomAD v4:
chr20-31644800-G-A
Joint Max Group AF 0.00672125 (AFR)
Genomes Max Group AF 0.00643444 (AFR)
Exomes Max Group AF 0.00662299 (AFR)
ClinVar RCV:
RCV000002774
RCV000284879
ClinVar Variation:
2655
dbSNP:
119455950
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31644800G>A , CM000682.2:g.31644800G>A GRCh38
NC_000020.10:g.30232603G>A , CM000682.1:g.30232603G>A GRCh37
NC_000020.9:g.29696264G>A NCBI36
NG_012180.1:g.11913G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376075.4:c.412G>A MANE Select ENSP00000365243.3:p.Glu138Lys
ENST00000376075.3:c.412G>A ENSP00000365243.3:p.Glu138Lys
ENST00000490030.1:n.310G>A
NM_032609.2:c.412G>A NP_115998.2:p.Glu138Lys
XM_005260579.3:c.427G>A XP_005260636.1:p.Glu143Lys
XM_005260580.3:c.295G>A XP_005260637.1:p.Glu99Lys
XM_005260581.2:c.280G>A XP_005260638.1:p.Glu94Lys
XM_011529086.1:c.313G>A XP_011527388.1:p.Glu105Lys
XM_005260579.4:c.427G>A XP_005260636.1:p.Glu143Lys
XM_005260580.4:c.295G>A XP_005260637.1:p.Glu99Lys
XM_005260581.3:c.280G>A XP_005260638.1:p.Glu94Lys
NM_032609.3:c.412G>A MANE Select NP_115998.2:p.Glu138Lys
Search 100 bp 5'
Search 100 bp 3'