Canonical Allele Identifier: CA7365410

Gene: COA8 KLC1

Linked Data

• ClinVar Variation Id: 1681856
• ClinVar RCV Id: RCV002236625 ; RCV002487034
• dbSNP Id: rs535382401
• ExAC: 14:104029423 G / A
• gnomAD v2: 14-104029423-G-A
• gnomAD v3: 14-103563086-G-A
• gnomAD v4: 14-103563086-G-A
• COSMIC: COSM4988452
• MyVariant Identifiers: chr14:g.104029423G>A (hg19) ; chr14:g.103563086G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103563086G>A , CM000676.2:g.103563086G>A	GRCh38
NC_000014.8:g.104029423G>A , CM000676.1:g.104029423G>A	GRCh37
NC_000014.7:g.103099176G>A	NCBI36
NG_041786.1:g.5130G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409074.8:c.85G>A (COA8) MANE Select	ENSP00000386485.3:p.Glu29Lys
ENST00000440963.2:c.85G>A (COA8)	ENSP00000388067.2:p.Glu29Lys
ENST00000458117.6:c.85G>A (COA8)	ENSP00000408525.2:p.Glu29Lys
ENST00000472726.3:c.85G>A	ENSP00000439065.2:p.Glu29Lys
ENST00000674165.1:c.124G>A (COA8)	ENSP00000501341.1:p.Glu42Lys
ENST00000409074.6:c.124G>A (COA8)	ENSP00000386485.2:p.Glu42Lys
ENST00000440963.1:c.122G>A (COA8)	ENSP00000388067.1:p.Gly41Glu
ENST00000458117.5:c.108G>A (COA8)
ENST00000472726.2:c.124G>A	ENSP00000439065.1:p.Glu42Lys
ENST00000489117.5:c.34G>A (COA8)	ENSP00000451788.1:p.Glu12Lys
ENST00000495778.1:c.10G>A (COA8)	ENSP00000451703.1:p.Glu4Lys
ENST00000554625.5:n.105G>A (COA8)
ENST00000556253.6:c.85G>A (COA8)	ENSP00000451874.2:p.Glu29Lys
ENST00000557172.5:c.-2+1102G>A (KLC1)	ENSP00000450786.1:n.-2+1102G>A
NM_001302652.1:c.124G>A (COA8)	NP_001289581.1:p.Glu42Lys
NM_001302653.1:c.124G>A (COA8)	NP_001289582.1:p.Glu42Lys
NM_001302654.1:c.124G>A (COA8)	NP_001289583.1:p.Glu42Lys
NM_032374.4:c.124G>A (COA8)	NP_115750.2:p.Glu42Lys
NR_126431.1:n.130G>A (COA8)
NR_126432.1:n.130G>A (COA8)
NM_001302652.2:c.85G>A (COA8)	NP_001289581.2:p.Glu29Lys
NM_001302653.2:c.85G>A (COA8)	NP_001289582.2:p.Glu29Lys
NM_001302654.2:c.85G>A (COA8)	NP_001289583.2:p.Glu29Lys
NM_001370595.2:c.85G>A (COA8) MANE Select	NP_001357524.1:p.Glu29Lys
NR_126431.2:n.127G>A (COA8)
NR_126432.2:n.127G>A (COA8)