Canonical Allele Identifier: CA7365430

Gene: COA8 KLC1

Linked Data

• ClinVar Variation Id: 515737
• ClinVar RCV Id: RCV000600358 ; RCV002232742 ; RCV002483693
• dbSNP Id: rs751821020
• ExAC: 14:104029471 G / A
• gnomAD v2: 14-104029471-G-A
• gnomAD v3: 14-103563134-G-A
• gnomAD v4: 14-103563134-G-A
• MyVariant Identifiers: chr14:g.104029471G>A (hg19) ; chr14:g.103563134G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103563134G>A , CM000676.2:g.103563134G>A	GRCh38
NC_000014.8:g.104029471G>A , CM000676.1:g.104029471G>A	GRCh37
NC_000014.7:g.103099224G>A	NCBI36
NG_041786.1:g.5178G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409074.8:c.123+10G>A (COA8) MANE Select	ENSP00000386485.3:n.123+10G>A
ENST00000440963.2:c.123+10G>A (COA8)	ENSP00000388067.2:n.123+10G>A
ENST00000458117.6:c.123+10G>A (COA8)	ENSP00000408525.2:n.123+10G>A
ENST00000472726.3:c.123+10G>A	ENSP00000439065.2:n.123+10G>A
ENST00000674165.1:c.162+10G>A (COA8)	ENSP00000501341.1:n.162+10G>A
ENST00000409074.6:c.162+10G>A (COA8)	ENSP00000386485.2:n.162+10G>A
ENST00000440963.1:c.160+10G>A (COA8)	ENSP00000388067.1:n.160+10G>A
ENST00000458117.5:c.146+10G>A (COA8)
ENST00000472726.2:c.162+10G>A	ENSP00000439065.1:n.162+10G>A
ENST00000489117.5:c.72+10G>A (COA8)	ENSP00000451788.1:n.72+10G>A
ENST00000495778.1:c.48+10G>A (COA8)	ENSP00000451703.1:n.48+10G>A
ENST00000554625.5:n.143+10G>A (COA8)
ENST00000556253.6:c.123+10G>A (COA8)	ENSP00000451874.2:n.123+10G>A
ENST00000557172.5:c.-2+1150G>A (KLC1)	ENSP00000450786.1:n.-2+1150G>A
NM_001302652.1:c.162+10G>A (COA8)	NP_001289581.1:n.162+10G>A
NM_001302653.1:c.162+10G>A (COA8)	NP_001289582.1:n.162+10G>A
NM_001302654.1:c.162+10G>A (COA8)	NP_001289583.1:n.162+10G>A
NM_032374.4:c.162+10G>A (COA8)	NP_115750.2:n.162+10G>A
NR_126431.1:n.168+10G>A (COA8)
NR_126432.1:n.168+10G>A (COA8)
NM_001302652.2:c.123+10G>A (COA8)	NP_001289581.2:n.123+10G>A
NM_001302653.2:c.123+10G>A (COA8)	NP_001289582.2:n.123+10G>A
NM_001302654.2:c.123+10G>A (COA8)	NP_001289583.2:n.123+10G>A
NM_001370595.2:c.123+10G>A (COA8) MANE Select	NP_001357524.1:n.123+10G>A
NR_126431.2:n.165+10G>A (COA8)
NR_126432.2:n.165+10G>A (COA8)