Canonical Allele Identifier: CA396578352

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515345A>G (hg19) ; chr16:g.70481442A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481442A>G , CM000678.2:g.70481442A>G	GRCh38
NC_000016.9:g.70515345A>G , CM000678.1:g.70515345A>G	GRCh37
NC_000016.8:g.69072846A>G	NCBI36
NG_027529.1:g.47113T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2228T>C	ENSP00000461912.2:n.*2228T>C
ENST00000703106.1:c.2197T>C	ENSP00000515173.1:n.2197T>C
ENST00000703107.1:c.*2081T>C	ENSP00000515174.1:n.*2081T>C
ENST00000703108.1:c.*600T>C	ENSP00000515175.1:n.*600T>C
ENST00000703109.1:c.2185T>C	ENSP00000515176.1:p.Tyr729His
ENST00000703110.1:c.*1654T>C	ENSP00000515177.1:n.*1654T>C
ENST00000703111.1:n.2435T>C
ENST00000703112.1:n.3096T>C
ENST00000703113.1:c.*1565T>C	ENSP00000515178.1:n.*1565T>C
ENST00000703114.1:c.*801T>C	ENSP00000515179.1:n.*801T>C
ENST00000703115.1:c.1265T>C	ENSP00000515180.1:n.1265T>C
ENST00000323786.10:c.2152T>C MANE Select	ENSP00000315775.5:p.Tyr718His
ENST00000564415.6:c.*1932T>C	ENSP00000456653.2:n.*1932T>C
ENST00000674443.1:c.2077T>C	ENSP00000501405.1:p.Tyr693His
ENST00000323786.9:c.2152T>C	ENSP00000315775.5:p.Tyr718His
ENST00000393612.8:c.2089T>C	ENSP00000377236.5:p.Tyr697His
ENST00000482252.5:c.2299T>C	ENSP00000432802.1:n.2299T>C
ENST00000526700.5:n.1328T>C
ENST00000530314.5:n.2831T>C
ENST00000564415.5:c.*1932T>C	ENSP00000456653.1:n.*1932T>C
ENST00000565715.1:c.214T>C	ENSP00000455693.1:p.Tyr72His
NM_001195139.1:c.2089T>C	NP_001182068.1:p.Tyr697His
NM_015386.2:c.2152T>C	NP_056201.2:p.Tyr718His
XM_011522981.1:c.1726T>C	XP_011521283.1:p.Tyr576His
XM_011522981.3:c.1726T>C	XP_011521283.1:p.Tyr576His
XM_024450224.1:c.1171T>C	XP_024305992.1:p.Tyr391His
XR_933266.2:n.2098T>C
NM_015386.3:c.2152T>C MANE Select	NP_056201.2:p.Tyr718His
NM_001195139.2:c.2077T>C	NP_001182068.2:p.Tyr693His
NM_001365426.1:c.1726T>C	NP_001352355.1:p.Tyr576His
NR_158212.1:n.2111T>C