Canonical Allele Identifier: CA396578130

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515314C>A (hg19) ; chr16:g.70481411C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481411C>A , CM000678.2:g.70481411C>A	GRCh38
NC_000016.9:g.70515314C>A , CM000678.1:g.70515314C>A	GRCh37
NC_000016.8:g.69072815C>A	NCBI36
NG_027529.1:g.47144G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2259G>T	ENSP00000461912.2:n.*2259G>T
ENST00000703106.1:c.2228G>T	ENSP00000515173.1:n.2228G>T
ENST00000703107.1:c.*2112G>T	ENSP00000515174.1:n.*2112G>T
ENST00000703108.1:c.*631G>T	ENSP00000515175.1:n.*631G>T
ENST00000703109.1:c.2216G>T	ENSP00000515176.1:p.Arg739Leu
ENST00000703110.1:c.*1685G>T	ENSP00000515177.1:n.*1685G>T
ENST00000703111.1:n.2466G>T
ENST00000703112.1:n.3127G>T
ENST00000703113.1:c.*1596G>T	ENSP00000515178.1:n.*1596G>T
ENST00000703114.1:c.*832G>T	ENSP00000515179.1:n.*832G>T
ENST00000703115.1:c.1296G>T	ENSP00000515180.1:n.1296G>T
ENST00000323786.10:c.2183G>T MANE Select	ENSP00000315775.5:p.Arg728Leu
ENST00000564415.6:c.*1963G>T	ENSP00000456653.2:n.*1963G>T
ENST00000674443.1:c.2108G>T	ENSP00000501405.1:p.Arg703Leu
ENST00000323786.9:c.2183G>T	ENSP00000315775.5:p.Arg728Leu
ENST00000393612.8:c.2120G>T	ENSP00000377236.5:p.Arg707Leu
ENST00000482252.5:c.2330G>T	ENSP00000432802.1:n.2330G>T
ENST00000526700.5:n.1359G>T
ENST00000530314.5:n.2862G>T
ENST00000564415.5:c.*1963G>T	ENSP00000456653.1:n.*1963G>T
ENST00000565715.1:c.245G>T	ENSP00000455693.1:p.Arg82Leu
NM_001195139.1:c.2120G>T	NP_001182068.1:p.Arg707Leu
NM_015386.2:c.2183G>T	NP_056201.2:p.Arg728Leu
XM_011522981.1:c.1757G>T	XP_011521283.1:p.Arg586Leu
XM_011522981.3:c.1757G>T	XP_011521283.1:p.Arg586Leu
XM_024450224.1:c.1202G>T	XP_024305992.1:p.Arg401Leu
XR_933266.2:n.2129G>T
NM_015386.3:c.2183G>T MANE Select	NP_056201.2:p.Arg728Leu
NM_001195139.2:c.2108G>T	NP_001182068.2:p.Arg703Leu
NM_001365426.1:c.1757G>T	NP_001352355.1:p.Arg586Leu
NR_158212.1:n.2142G>T