Canonical Allele Identifier: CA396578086

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515308T>G (hg19) ; chr16:g.70481405T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481405T>G , CM000678.2:g.70481405T>G	GRCh38
NC_000016.9:g.70515308T>G , CM000678.1:g.70515308T>G	GRCh37
NC_000016.8:g.69072809T>G	NCBI36
NG_027529.1:g.47150A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2265A>C	ENSP00000461912.2:n.*2265A>C
ENST00000703106.1:c.2234A>C	ENSP00000515173.1:n.2234A>C
ENST00000703107.1:c.*2118A>C	ENSP00000515174.1:n.*2118A>C
ENST00000703108.1:c.*637A>C	ENSP00000515175.1:n.*637A>C
ENST00000703109.1:c.2222A>C	ENSP00000515176.1:p.Lys741Thr
ENST00000703110.1:c.*1691A>C	ENSP00000515177.1:n.*1691A>C
ENST00000703111.1:n.2472A>C
ENST00000703112.1:n.3133A>C
ENST00000703113.1:c.*1602A>C	ENSP00000515178.1:n.*1602A>C
ENST00000703114.1:c.*838A>C	ENSP00000515179.1:n.*838A>C
ENST00000703115.1:c.1302A>C	ENSP00000515180.1:n.1302A>C
ENST00000323786.10:c.2189A>C MANE Select	ENSP00000315775.5:p.Lys730Thr
ENST00000564415.6:c.*1969A>C	ENSP00000456653.2:n.*1969A>C
ENST00000674443.1:c.2114A>C	ENSP00000501405.1:p.Lys705Thr
ENST00000323786.9:c.2189A>C	ENSP00000315775.5:p.Lys730Thr
ENST00000393612.8:c.2126A>C	ENSP00000377236.5:p.Lys709Thr
ENST00000482252.5:c.2336A>C	ENSP00000432802.1:n.2336A>C
ENST00000526700.5:n.1365A>C
ENST00000530314.5:n.2868A>C
ENST00000564415.5:c.*1969A>C	ENSP00000456653.1:n.*1969A>C
ENST00000565715.1:c.251A>C	ENSP00000455693.1:p.Lys84Thr
NM_001195139.1:c.2126A>C	NP_001182068.1:p.Lys709Thr
NM_015386.2:c.2189A>C	NP_056201.2:p.Lys730Thr
XM_011522981.1:c.1763A>C	XP_011521283.1:p.Lys588Thr
XM_011522981.3:c.1763A>C	XP_011521283.1:p.Lys588Thr
XM_024450224.1:c.1208A>C	XP_024305992.1:p.Lys403Thr
XR_933266.2:n.2135A>C
NM_015386.3:c.2189A>C MANE Select	NP_056201.2:p.Lys730Thr
NM_001195139.2:c.2114A>C	NP_001182068.2:p.Lys705Thr
NM_001365426.1:c.1763A>C	NP_001352355.1:p.Lys588Thr
NR_158212.1:n.2148A>C