Canonical Allele Identifier: CA290442

Gene: FAM161B COQ6

Linked Data

• ClinVar Variation Id: 136986
• ClinVar RCV Id: RCV000124550 ; RCV001198189 ; RCV003965043
• dbSNP Id: rs17094161
• ExAC: 14:74416836 G / A
• gnomAD v2: 14-74416836-G-A
• gnomAD v3: 14-73950133-G-A
• gnomAD v4: 14-73950133-G-A
• MyVariant Identifiers: chr14:g.74416836G>A (hg19) ; chr14:g.73950133G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73950133G>A , CM000676.2:g.73950133G>A	GRCh38
NC_000014.8:g.74416836G>A , CM000676.1:g.74416836G>A	GRCh37
NC_000014.7:g.73486589G>A	NCBI36
NG_032805.1:g.5200G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651776.1:c.83C>T (FAM161B)	ENSP00000499021.1:p.Pro28Leu
ENST00000286544.3:c.83C>T (FAM161B)	ENSP00000286544.3:p.Pro28Leu
ENST00000394026.8:c.41G>A (COQ6)	ENSP00000377594.4:p.Trp14Ter
ENST00000554341.6:c.41G>A (COQ6)	ENSP00000450736.2:p.Trp14Ter
NM_152445.2:c.83C>T (FAM161B)	NP_689658.2:p.Pro28Leu
NM_182480.2:c.41G>A (COQ6)	NP_872286.2:p.Trp14Ter
XM_011536475.1:c.83C>T (FAM161B)	XP_011534777.1:p.Pro28Leu
XM_011536809.1:c.-51G>A (COQ6)	XP_011535111.1:n.-51G>A
XM_011536475.2:c.83C>T (FAM161B)	XP_011534777.1:p.Pro28Leu
XM_011536809.3:c.-51G>A (COQ6)	XP_011535111.1:n.-51G>A
NM_182480.3:c.41G>A (COQ6)	NP_872286.2:p.Trp14Ter