Canonical Allele Identifier: CA496227843

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515388C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481485C>G , CM000678.2:g.70481485C>G	GRCh38
NC_000016.9:g.70515388C>G , CM000678.1:g.70515388C>G	GRCh37
NC_000016.8:g.69072889C>G	NCBI36
NG_027529.1:g.47070G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2185G>C	ENSP00000461912.2:n.*2185G>C
ENST00000703106.1:c.2154G>C	ENSP00000515173.1:n.2154G>C
ENST00000703107.1:c.*2038G>C	ENSP00000515174.1:n.*2038G>C
ENST00000703108.1:c.*557G>C	ENSP00000515175.1:n.*557G>C
ENST00000703109.1:c.2142G>C	ENSP00000515176.1:p.Leu714=
ENST00000703110.1:c.*1611G>C	ENSP00000515177.1:n.*1611G>C
ENST00000703111.1:n.2392G>C
ENST00000703112.1:n.3053G>C
ENST00000703113.1:c.*1522G>C	ENSP00000515178.1:n.*1522G>C
ENST00000703114.1:c.*758G>C	ENSP00000515179.1:n.*758G>C
ENST00000703115.1:c.1222G>C	ENSP00000515180.1:n.1222G>C
ENST00000323786.10:c.2109G>C MANE Select	ENSP00000315775.5:p.Leu703=
ENST00000564415.6:c.*1889G>C	ENSP00000456653.2:n.*1889G>C
ENST00000674443.1:c.2034G>C	ENSP00000501405.1:p.Leu678=
ENST00000323786.9:c.2109G>C	ENSP00000315775.5:p.Leu703=
ENST00000393612.8:c.2046G>C	ENSP00000377236.5:p.Leu682=
ENST00000482252.5:c.2256G>C	ENSP00000432802.1:n.2256G>C
ENST00000526700.5:n.1285G>C
ENST00000530314.5:n.2788G>C
ENST00000564415.5:c.*1889G>C	ENSP00000456653.1:n.*1889G>C
ENST00000565715.1:c.171G>C	ENSP00000455693.1:p.Leu57=
NM_001195139.1:c.2046G>C	NP_001182068.1:p.Leu682=
NM_015386.2:c.2109G>C	NP_056201.2:p.Leu703=
XM_011522981.1:c.1683G>C	XP_011521283.1:p.Leu561=
XM_011522981.3:c.1683G>C	XP_011521283.1:p.Leu561=
XM_024450224.1:c.1128G>C	XP_024305992.1:p.Leu376=
XR_001751889.1:n.1992G>C
XR_933266.2:n.2055G>C
NM_015386.3:c.2109G>C MANE Select	NP_056201.2:p.Leu703=
NM_001195139.2:c.2034G>C	NP_001182068.2:p.Leu678=
NM_001365426.1:c.1683G>C	NP_001352355.1:p.Leu561=
NR_158212.1:n.2068G>C