Canonical Allele Identifier: CA115666

Gene: COX4I2

Linked Data

• ClinVar Variation Id: 2655
• ClinVar RCV Id: RCV000002774 ; RCV000284879
• dbSNP Id: rs119455950
• ExAC: 20:30232603 G / A
• gnomAD v2: 20-30232603-G-A
• gnomAD v3: 20-31644800-G-A
• gnomAD v4: 20-31644800-G-A
• MyVariant Identifiers: chr20:g.30232603G>A (hg19) ; chr20:g.31644800G>A (hg38)
• PubMed: PMID:19268275

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