Canonical Allele Identifier: CA290439

Gene: FAM161B COQ6

Linked Data

• ClinVar Variation Id: 136984
• ClinVar RCV Id: RCV000124548
• dbSNP Id: rs190881382
• ExAC: 14:74416782 T / G
• gnomAD v2: 14-74416782-T-G
• gnomAD v3: 14-73950079-T-G
• gnomAD v4: 14-73950079-T-G
• MyVariant Identifiers: chr14:g.74416782T>G (hg19) ; chr14:g.73950079T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73950079T>G , CM000676.2:g.73950079T>G	GRCh38
NC_000014.8:g.74416782T>G , CM000676.1:g.74416782T>G	GRCh37
NC_000014.7:g.73486535T>G	NCBI36
NG_032805.1:g.5146T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286544.5:c.-53A>C (FAM161B) MANE Select	ENSP00000286544.4:n.-53A>C
ENST00000651776.1:c.137A>C (FAM161B)	ENSP00000499021.1:p.His46Pro
ENST00000286544.3:c.137A>C (FAM161B)	ENSP00000286544.3:p.His46Pro
ENST00000394026.8:c.-14T>G (COQ6)	ENSP00000377594.4:n.-14T>G
ENST00000554341.6:c.-14T>G (COQ6)	ENSP00000450736.2:n.-14T>G
NM_152445.2:c.137A>C (FAM161B)	NP_689658.2:p.His46Pro
NM_182480.2:c.-14T>G (COQ6)	NP_872286.2:n.-14T>G
XM_011536475.1:c.137A>C (FAM161B)	XP_011534777.1:p.His46Pro
XM_011536809.1:c.-105T>G (COQ6)	XP_011535111.1:n.-105T>G
NM_152445.3:c.-53A>C (FAM161B) MANE Select	NP_689658.3:n.-53A>C
XM_011536475.2:c.137A>C (FAM161B)	XP_011534777.1:p.His46Pro
XM_011536809.3:c.-105T>G (COQ6)	XP_011535111.1:n.-105T>G
NM_182480.3:c.-14T>G (COQ6)	NP_872286.2:n.-14T>G