Canonical Allele Identifier: CA396030412

Gene: COQ9

Linked Data

• MyVariant Identifiers: chr16:g.57493629G>T (hg19) ; chr16:g.57459717G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57459717G>T , CM000678.2:g.57459717G>T	GRCh38
NC_000016.9:g.57493629G>T , CM000678.1:g.57493629G>T	GRCh37
NC_000016.8:g.56051130G>T	NCBI36
NG_027696.1:g.17293G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262507.11:c.864G>T MANE Select	ENSP00000262507.5:p.Lys288Asn
ENST00000262507.10:c.864G>T	ENSP00000262507.5:p.Lys288Asn
ENST00000563166.1:c.304-1455G>T	ENSP00000455495.1:n.304-1455G>T
ENST00000564115.5:c.*212G>T	ENSP00000455256.1:n.*212G>T
ENST00000564655.5:c.876G>T	ENSP00000454992.1:p.Lys292Asn
ENST00000567072.5:c.759G>T	ENSP00000456728.1:p.Lys253Asn
ENST00000567933.5:c.531G>T	ENSP00000456174.1:p.Lys177Asn
ENST00000569980.1:n.379G>T
NM_020312.3:c.864G>T	NP_064708.1:p.Lys288Asn
NM_020312.4:c.864G>T MANE Select	NP_064708.1:p.Lys288Asn