Canonical Allele Identifier: CA7365411

Gene: COA8 KLC1

Linked Data

• ClinVar Variation Id: 2523113
• ClinVar RCV Id: RCV003265715 ; RCV003730494
• dbSNP Id: rs752008808
• ExAC: 14:104029429 G / C
• gnomAD v2: 14-104029429-G-C
• gnomAD v3: 14-103563092-G-C
• gnomAD v4: 14-103563092-G-C
• MyVariant Identifiers: chr14:g.104029429G>C (hg19) ; chr14:g.103563092G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103563092G>C , CM000676.2:g.103563092G>C	GRCh38
NC_000014.8:g.104029429G>C , CM000676.1:g.104029429G>C	GRCh37
NC_000014.7:g.103099182G>C	NCBI36
NG_041786.1:g.5136G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409074.8:c.91G>C (COA8) MANE Select	ENSP00000386485.3:p.Gly31Arg
ENST00000440963.2:c.91G>C (COA8)	ENSP00000388067.2:p.Gly31Arg
ENST00000458117.6:c.91G>C (COA8)	ENSP00000408525.2:p.Gly31Arg
ENST00000472726.3:c.91G>C	ENSP00000439065.2:p.Gly31Arg
ENST00000674165.1:c.130G>C (COA8)	ENSP00000501341.1:p.Gly44Arg
ENST00000409074.6:c.130G>C (COA8)	ENSP00000386485.2:p.Gly44Arg
ENST00000440963.1:c.128G>C (COA8)	ENSP00000388067.1:p.Arg43Pro
ENST00000458117.5:c.114G>C (COA8)
ENST00000472726.2:c.130G>C	ENSP00000439065.1:p.Gly44Arg
ENST00000489117.5:c.40G>C (COA8)	ENSP00000451788.1:p.Gly14Arg
ENST00000495778.1:c.16G>C (COA8)	ENSP00000451703.1:p.Gly6Arg
ENST00000554625.5:n.111G>C (COA8)
ENST00000556253.6:c.91G>C (COA8)	ENSP00000451874.2:p.Gly31Arg
ENST00000557172.5:c.-2+1108G>C (KLC1)	ENSP00000450786.1:n.-2+1108G>C
NM_001302652.1:c.130G>C (COA8)	NP_001289581.1:p.Gly44Arg
NM_001302653.1:c.130G>C (COA8)	NP_001289582.1:p.Gly44Arg
NM_001302654.1:c.130G>C (COA8)	NP_001289583.1:p.Gly44Arg
NM_032374.4:c.130G>C (COA8)	NP_115750.2:p.Gly44Arg
NR_126431.1:n.136G>C (COA8)
NR_126432.1:n.136G>C (COA8)
NM_001302652.2:c.91G>C (COA8)	NP_001289581.2:p.Gly31Arg
NM_001302653.2:c.91G>C (COA8)	NP_001289582.2:p.Gly31Arg
NM_001302654.2:c.91G>C (COA8)	NP_001289583.2:p.Gly31Arg
NM_001370595.2:c.91G>C (COA8) MANE Select	NP_001357524.1:p.Gly31Arg
NR_126431.2:n.133G>C (COA8)
NR_126432.2:n.133G>C (COA8)