Canonical Allele Identifier: CA16044183
Gene: COQ8A HGNC NCBI

Linked Data

ClinVar Variation Id: 375331
dbSNP Id: rs1057519343

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226984892T>C , CM000663.2:g.226984892T>C GRCh38
NC_000001.10:g.227172593T>C , CM000663.1:g.227172593T>C GRCh37
NC_000001.9:g.225239216T>C NCBI36
NG_012825.1:g.49656T>C
NG_012825.2:g.92357T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366777.4:c.1523T>C MANE Select ENSP00000355739.3:p.Phe508Ser
ENST00000366779.6:c.*6250T>C ENSP00000355741.2:n.*6250T>C
ENST00000366777.3:c.1523T>C ENSP00000355739.3:p.Phe508Ser
ENST00000366778.5:c.1367T>C ENSP00000355740.1:p.Phe456Ser
ENST00000366779.5:c.1523T>C ENSP00000355741.1:p.Phe508Ser
ENST00000478406.5:n.2385T>C
ENST00000479852.1:n.710T>C
ENST00000485462.5:n.913T>C
NM_020247.4:c.1523T>C NP_064632.2:p.Phe508Ser
XM_005273201.1:c.1523T>C XP_005273258.1:p.Phe508Ser
XM_011544238.1:c.1523T>C XP_011542540.1:p.Phe508Ser
XM_011544239.1:c.1523T>C XP_011542541.1:p.Phe508Ser
XM_011544240.1:c.1523T>C XP_011542542.1:p.Phe508Ser
XM_011544241.1:c.1523T>C XP_011542543.1:p.Phe508Ser
XM_011544239.2:c.1523T>C XP_011542541.1:p.Phe508Ser
XM_011544241.2:c.1523T>C XP_011542543.1:p.Phe508Ser
XM_017001852.1:c.1523T>C XP_016857341.1:p.Phe508Ser
XM_024448517.1:c.1523T>C XP_024304285.1:p.Phe508Ser
XM_024448518.1:c.1523T>C XP_024304286.1:p.Phe508Ser
NM_020247.5:c.1523T>C MANE Select NP_064632.2:p.Phe508Ser