Canonical Allele Identifier: CA396578097

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515309T>G (hg19) ; chr16:g.70481406T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481406T>G , CM000678.2:g.70481406T>G	GRCh38
NC_000016.9:g.70515309T>G , CM000678.1:g.70515309T>G	GRCh37
NC_000016.8:g.69072810T>G	NCBI36
NG_027529.1:g.47149A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2264A>C	ENSP00000461912.2:n.*2264A>C
ENST00000703106.1:c.2233A>C	ENSP00000515173.1:n.2233A>C
ENST00000703107.1:c.*2117A>C	ENSP00000515174.1:n.*2117A>C
ENST00000703108.1:c.*636A>C	ENSP00000515175.1:n.*636A>C
ENST00000703109.1:c.2221A>C	ENSP00000515176.1:p.Lys741Gln
ENST00000703110.1:c.*1690A>C	ENSP00000515177.1:n.*1690A>C
ENST00000703111.1:n.2471A>C
ENST00000703112.1:n.3132A>C
ENST00000703113.1:c.*1601A>C	ENSP00000515178.1:n.*1601A>C
ENST00000703114.1:c.*837A>C	ENSP00000515179.1:n.*837A>C
ENST00000703115.1:c.1301A>C	ENSP00000515180.1:n.1301A>C
ENST00000323786.10:c.2188A>C MANE Select	ENSP00000315775.5:p.Lys730Gln
ENST00000564415.6:c.*1968A>C	ENSP00000456653.2:n.*1968A>C
ENST00000674443.1:c.2113A>C	ENSP00000501405.1:p.Lys705Gln
ENST00000323786.9:c.2188A>C	ENSP00000315775.5:p.Lys730Gln
ENST00000393612.8:c.2125A>C	ENSP00000377236.5:p.Lys709Gln
ENST00000482252.5:c.2335A>C	ENSP00000432802.1:n.2335A>C
ENST00000526700.5:n.1364A>C
ENST00000530314.5:n.2867A>C
ENST00000564415.5:c.*1968A>C	ENSP00000456653.1:n.*1968A>C
ENST00000565715.1:c.250A>C	ENSP00000455693.1:p.Lys84Gln
NM_001195139.1:c.2125A>C	NP_001182068.1:p.Lys709Gln
NM_015386.2:c.2188A>C	NP_056201.2:p.Lys730Gln
XM_011522981.1:c.1762A>C	XP_011521283.1:p.Lys588Gln
XM_011522981.3:c.1762A>C	XP_011521283.1:p.Lys588Gln
XM_024450224.1:c.1207A>C	XP_024305992.1:p.Lys403Gln
XR_933266.2:n.2134A>C
NM_015386.3:c.2188A>C MANE Select	NP_056201.2:p.Lys730Gln
NM_001195139.2:c.2113A>C	NP_001182068.2:p.Lys705Gln
NM_001365426.1:c.1762A>C	NP_001352355.1:p.Lys588Gln
NR_158212.1:n.2147A>C