Canonical Allele Identifier: CA267203443

Gene: COA8 KLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103590409C>G , CM000676.2:g.103590409C>G	GRCh38
NC_000014.8:g.104056746C>G , CM000676.1:g.104056746C>G	GRCh37
NC_000014.7:g.103126499C>G	NCBI36
NG_041786.1:g.32453C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001370595.2:c.*123C>G (COA8) MANE Select	NP_001357524.1:n.*123C>G
ENST00000409074.8:c.*123C>G (COA8) MANE Select	ENSP00000386485.3:n.*123C>G
NM_001302652.1:c.*151C>G (COA8)	NP_001289581.1:n.*151C>G
NM_001302652.2:c.*151C>G (COA8)	NP_001289581.2:n.*151C>G
NM_001302653.1:c.*259C>G (COA8)	NP_001289582.1:n.*259C>G
NM_001302653.2:c.*259C>G (COA8)	NP_001289582.2:n.*259C>G
NM_032374.4:c.*123C>G (COA8)	NP_115750.2:n.*123C>G
NR_126431.1:n.915C>G (COA8)
NR_126431.2:n.912C>G (COA8)
NR_126432.1:n.686C>G (COA8)
NR_126432.2:n.683C>G (COA8)
ENST00000409074.6:c.*123C>G (COA8)	ENSP00000386485.2:n.*123C>G
ENST00000440963.1:c.480C>G (COA8)	ENSP00000388067.1:n.480C>G
ENST00000440963.2:c.*302C>G (COA8)	ENSP00000388067.2:n.*302C>G
ENST00000458117.5:c.664C>G (COA8)
ENST00000458117.6:c.*302C>G (COA8)	ENSP00000408525.2:n.*302C>G
ENST00000472726.2:c.515+3045C>G	ENSP00000439065.1:n.515+3045C>G
ENST00000472726.3:c.476+3045C>G	ENSP00000439065.2:n.476+3045C>G
ENST00000473127.5:c.*123C>G (COA8)	ENSP00000489380.1:n.*123C>G
ENST00000474271.1:n.220+3045C>G (COA8)
ENST00000476323.5:c.*110C>G (COA8)	ENSP00000489047.1:n.*110C>G
ENST00000477116.5:c.*123C>G (COA8)	ENSP00000489152.1:n.*123C>G
ENST00000557079.1:n.511C>G (COA8)
ENST00000557172.5:c.-2+28425C>G (KLC1)	ENSP00000450786.1:n.-2+28425C>G
ENST00000674165.1:c.744C>G (COA8)	ENSP00000501341.1:n.744C>G