Canonical Allele Identifier: CA1425243

Gene: COQ8A

Linked Data

• ClinVar Variation Id: 804512
• ClinVar RCV Id: RCV000991503
• dbSNP Id: rs759061098
• ExAC: 1:227170602 TCAA / T
• gnomAD v2: 1-227170602-TCAA-T
• gnomAD v3: 1-226982901-TCAA-T
• gnomAD v4: 1-226982901-TCAA-T
• MyVariant Identifiers: chr1:g.227170603_227170605del (hg19) ; chr1:g.226982902_226982904del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982906_226982908del , CM000663.2:g.226982906_226982908del	GRCh38
NC_000001.10:g.227170607_227170609del , CM000663.1:g.227170607_227170609del	GRCh37
NC_000001.9:g.225237230_225237232del	NCBI36
NG_012825.1:g.47670_47672del
NG_012825.2:g.90371_90373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.952_954del MANE Select	ENSP00000355739.3:p.Asn318del
ENST00000366779.6:c.*5679_*5681del	ENSP00000355741.2:n.*5679_*5681del
ENST00000676884.1:c.*5801_*5803del	ENSP00000503200.1:n.*5801_*5803del
ENST00000366777.3:c.952_954del	ENSP00000355739.3:p.Asn318del
ENST00000366778.5:c.796_798del	ENSP00000355740.1:p.Asn266del
ENST00000366779.5:c.952_954del	ENSP00000355741.1:p.Asn318del
ENST00000478406.5:n.931_933del
ENST00000485462.5:n.342_344del
NM_020247.4:c.952_954del	NP_064632.2:p.Asn318del
XM_005273201.1:c.952_954del	XP_005273258.1:p.Asn318del
XM_011544238.1:c.952_954del	XP_011542540.1:p.Asn318del
XM_011544239.1:c.952_954del	XP_011542541.1:p.Asn318del
XM_011544240.1:c.952_954del	XP_011542542.1:p.Asn318del
XM_011544241.1:c.952_954del	XP_011542543.1:p.Asn318del
XM_011544239.2:c.952_954del	XP_011542541.1:p.Asn318del
XM_011544241.2:c.952_954del	XP_011542543.1:p.Asn318del
XM_017001852.1:c.952_954del	XP_016857341.1:p.Asn318del
XM_024448517.1:c.952_954del	XP_024304285.1:p.Asn318del
XM_024448518.1:c.952_954del	XP_024304286.1:p.Asn318del
NM_020247.5:c.952_954del MANE Select	NP_064632.2:p.Asn318del