Canonical Allele Identifier: CA116400
Gene: COQ8A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3637
ClinVar RCV Id: RCV000003822
dbSNP Id: rs119468005

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226965719C>T , CM000663.2:g.226965719C>T GRCh38
NC_000001.9:g.225220043C>T NCBI36
NC_000001.10:g.227153420C>T , CM000663.1:g.227153420C>T GRCh37
NG_012825.1:g.30483C>T
NG_012825.2:g.73184C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366777.3:c.637C>T ENSP00000355739.3:p.Arg213Trp
ENST00000366778.5:c.481C>T ENSP00000355740.1:p.Arg161Trp
ENST00000366779.5:c.637C>T ENSP00000355741.1:p.Arg213Trp
ENST00000478406.5:n.107-11730C>T
ENST00000489044.1:n.848C>T
NM_020247.4:c.637C>T VV NP_064632.2:p.Arg213Trp
XM_005273201.1:c.637C>T XP_005273258.1:p.Arg213Trp
XM_011544238.1:c.637C>T XP_011542540.1:p.Arg213Trp
XM_011544239.1:c.637C>T XP_011542541.1:p.Arg213Trp
XM_011544240.1:c.637C>T XP_011542542.1:p.Arg213Trp
XM_011544241.1:c.637C>T XP_011542543.1:p.Arg213Trp
XM_011544239.2:c.637C>T
XM_011544241.2:c.637C>T
XM_017001852.1:c.637C>T XP_016857341.1:p.Arg213Trp
XM_024448517.1:c.637C>T XP_024304285.1:p.Arg213Trp
XM_024448518.1:c.637C>T XP_024304286.1:p.Arg213Trp