Canonical Allele Identifier: CA391116040

Gene: COA8 KLC1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103587365G>A , CM000676.2:g.103587365G>A	GRCh38
NC_000014.8:g.104053702G>A , CM000676.1:g.104053702G>A	GRCh37
NC_000014.7:g.103123455G>A	NCBI36
NG_041786.1:g.29409G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409074.8:c.476+1G>A (COA8) MANE Select	ENSP00000386485.3:n.476+1G>A
ENST00000440963.2:c.*73+1G>A (COA8)	ENSP00000388067.2:n.*73+1G>A
ENST00000458117.6:c.*73+1G>A (COA8)	ENSP00000408525.2:n.*73+1G>A
ENST00000472726.3:c.476+1G>A	ENSP00000439065.2:n.476+1G>A
ENST00000674165.1:c.515+1G>A (COA8)	ENSP00000501341.1:n.515+1G>A
ENST00000409074.6:c.515+1G>A (COA8)	ENSP00000386485.2:n.515+1G>A
ENST00000440963.1:c.251+1G>A (COA8)	ENSP00000388067.1:n.251+1G>A
ENST00000458117.5:c.435+1G>A (COA8)
ENST00000472726.2:c.515+1G>A	ENSP00000439065.1:n.515+1G>A
ENST00000473127.5:c.62+1G>A (COA8)	ENSP00000489380.1:n.62+1G>A
ENST00000474271.1:n.220+1G>A (COA8)
ENST00000476323.5:c.62+1G>A (COA8)	ENSP00000489047.1:n.62+1G>A
ENST00000477116.5:c.62+1G>A (COA8)	ENSP00000489152.1:n.62+1G>A
ENST00000489117.5:c.590+1G>A (COA8)	ENSP00000451788.1:n.590+1G>A
ENST00000492189.5:c.62+1G>A (COA8)	ENSP00000489557.1:n.62+1G>A
ENST00000555660.5:c.279+1G>A (COA8)
ENST00000556253.6:c.*30+1G>A (COA8)	ENSP00000451874.2:n.*30+1G>A
ENST00000557172.5:c.-2+25381G>A (KLC1)	ENSP00000450786.1:n.-2+25381G>A
NM_001302652.1:c.515+1G>A (COA8)	NP_001289581.1:n.515+1G>A
NM_001302653.1:c.*30+1G>A (COA8)	NP_001289582.1:n.*30+1G>A
NM_032374.4:c.515+1G>A (COA8)	NP_115750.2:n.515+1G>A
NR_126431.1:n.686+1G>A (COA8)
NR_126432.1:n.457+1G>A (COA8)
NM_001302652.2:c.476+1G>A (COA8)	NP_001289581.2:n.476+1G>A
NM_001302653.2:c.*30+1G>A (COA8)	NP_001289582.2:n.*30+1G>A
NM_001370595.2:c.476+1G>A (COA8) MANE Select	NP_001357524.1:n.476+1G>A
NR_126431.2:n.683+1G>A (COA8)
NR_126432.2:n.454+1G>A (COA8)