Canonical Allele Identifier: CA396578617

Gene: COG4

Linked Data

• gnomAD v4: 16-70481481-C-G
• MyVariant Identifiers: chr16:g.70515384C>G (hg19) ; chr16:g.70481481C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481481C>G , CM000678.2:g.70481481C>G	GRCh38
NC_000016.9:g.70515384C>G , CM000678.1:g.70515384C>G	GRCh37
NC_000016.8:g.69072885C>G	NCBI36
NG_027529.1:g.47074G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2189G>C	ENSP00000461912.2:n.*2189G>C
ENST00000703106.1:c.2158G>C	ENSP00000515173.1:n.2158G>C
ENST00000703107.1:c.*2042G>C	ENSP00000515174.1:n.*2042G>C
ENST00000703108.1:c.*561G>C	ENSP00000515175.1:n.*561G>C
ENST00000703109.1:c.2146G>C	ENSP00000515176.1:p.Gly716Arg
ENST00000703110.1:c.*1615G>C	ENSP00000515177.1:n.*1615G>C
ENST00000703111.1:n.2396G>C
ENST00000703112.1:n.3057G>C
ENST00000703113.1:c.*1526G>C	ENSP00000515178.1:n.*1526G>C
ENST00000703114.1:c.*762G>C	ENSP00000515179.1:n.*762G>C
ENST00000703115.1:c.1226G>C	ENSP00000515180.1:n.1226G>C
ENST00000323786.10:c.2113G>C MANE Select	ENSP00000315775.5:p.Gly705Arg
ENST00000564415.6:c.*1893G>C	ENSP00000456653.2:n.*1893G>C
ENST00000674443.1:c.2038G>C	ENSP00000501405.1:p.Gly680Arg
ENST00000323786.9:c.2113G>C	ENSP00000315775.5:p.Gly705Arg
ENST00000393612.8:c.2050G>C	ENSP00000377236.5:p.Gly684Arg
ENST00000482252.5:c.2260G>C	ENSP00000432802.1:n.2260G>C
ENST00000526700.5:n.1289G>C
ENST00000530314.5:n.2792G>C
ENST00000564415.5:c.*1893G>C	ENSP00000456653.1:n.*1893G>C
ENST00000565715.1:c.175G>C	ENSP00000455693.1:p.Gly59Arg
NM_001195139.1:c.2050G>C	NP_001182068.1:p.Gly684Arg
NM_015386.2:c.2113G>C	NP_056201.2:p.Gly705Arg
XM_011522981.1:c.1687G>C	XP_011521283.1:p.Gly563Arg
XM_011522981.3:c.1687G>C	XP_011521283.1:p.Gly563Arg
XM_024450224.1:c.1132G>C	XP_024305992.1:p.Gly378Arg
XR_001751889.1:n.1996G>C
XR_933266.2:n.2059G>C
NM_015386.3:c.2113G>C MANE Select	NP_056201.2:p.Gly705Arg
NM_001195139.2:c.2038G>C	NP_001182068.2:p.Gly680Arg
NM_001365426.1:c.1687G>C	NP_001352355.1:p.Gly563Arg
NR_158212.1:n.2072G>C