Canonical Allele Identifier: CA1459916

Gene: COA6 COA6-AS1

Linked Data

• ClinVar Variation Id: 380009
• ClinVar RCV Id: RCV000423818 ; RCV001584118
• dbSNP Id: rs10910420
• ExAC: 1:234509259 G / C
• gnomAD v2: 1-234509259-G-C
• gnomAD v3: 1-234373513-G-C
• gnomAD v4: 1-234373513-G-C
• MyVariant Identifiers: chr1:g.234509259G>C (hg19) ; chr1:g.234373513G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.234373513G>C , CM000663.2:g.234373513G>C	GRCh38
NC_000001.10:g.234509259G>C , CM000663.1:g.234509259G>C	GRCh37
NC_000001.9:g.232575882G>C	NCBI36
NG_034250.1:g.5077G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366615.10:c.47G>C (COA6) MANE Select	ENSP00000355574.5:p.Ser16Thr
ENST00000366615.8:c.47G>C (COA6)	ENSP00000355574.4:p.Ser16Thr
ENST00000619305.1:c.-182G>C (COA6)	ENSP00000479686.1:n.-182G>C
NM_001206641.2:c.47G>C (COA6)	NP_001193570.2:p.Ser16Thr
NR_125961.1:n.81C>G (COA6-AS1)
NM_001206641.3:c.47G>C (COA6) MANE Select	NP_001193570.2:p.Ser16Thr