Canonical Allele Identifier: CA396578374

Gene: COG4

Linked Data

• gnomAD v4: 16-70481446-A-C
• MyVariant Identifiers: chr16:g.70515349A>C (hg19) ; chr16:g.70481446A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481446A>C , CM000678.2:g.70481446A>C	GRCh38
NC_000016.9:g.70515349A>C , CM000678.1:g.70515349A>C	GRCh37
NC_000016.8:g.69072850A>C	NCBI36
NG_027529.1:g.47109T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2224T>G	ENSP00000461912.2:n.*2224T>G
ENST00000703106.1:c.2193T>G	ENSP00000515173.1:n.2193T>G
ENST00000703107.1:c.*2077T>G	ENSP00000515174.1:n.*2077T>G
ENST00000703108.1:c.*596T>G	ENSP00000515175.1:n.*596T>G
ENST00000703109.1:c.2181T>G	ENSP00000515176.1:p.Ile727Met
ENST00000703110.1:c.*1650T>G	ENSP00000515177.1:n.*1650T>G
ENST00000703111.1:n.2431T>G
ENST00000703112.1:n.3092T>G
ENST00000703113.1:c.*1561T>G	ENSP00000515178.1:n.*1561T>G
ENST00000703114.1:c.*797T>G	ENSP00000515179.1:n.*797T>G
ENST00000703115.1:c.1261T>G	ENSP00000515180.1:n.1261T>G
ENST00000323786.10:c.2148T>G MANE Select	ENSP00000315775.5:p.Ile716Met
ENST00000564415.6:c.*1928T>G	ENSP00000456653.2:n.*1928T>G
ENST00000674443.1:c.2073T>G	ENSP00000501405.1:p.Ile691Met
ENST00000323786.9:c.2148T>G	ENSP00000315775.5:p.Ile716Met
ENST00000393612.8:c.2085T>G	ENSP00000377236.5:p.Ile695Met
ENST00000482252.5:c.2295T>G	ENSP00000432802.1:n.2295T>G
ENST00000526700.5:n.1324T>G
ENST00000530314.5:n.2827T>G
ENST00000564415.5:c.*1928T>G	ENSP00000456653.1:n.*1928T>G
ENST00000565715.1:c.210T>G	ENSP00000455693.1:p.Ile70Met
NM_001195139.1:c.2085T>G	NP_001182068.1:p.Ile695Met
NM_015386.2:c.2148T>G	NP_056201.2:p.Ile716Met
XM_011522981.1:c.1722T>G	XP_011521283.1:p.Ile574Met
XM_011522981.3:c.1722T>G	XP_011521283.1:p.Ile574Met
XM_024450224.1:c.1167T>G	XP_024305992.1:p.Ile389Met
XR_933266.2:n.2094T>G
NM_015386.3:c.2148T>G MANE Select	NP_056201.2:p.Ile716Met
NM_001195139.2:c.2073T>G	NP_001182068.2:p.Ile691Met
NM_001365426.1:c.1722T>G	NP_001352355.1:p.Ile574Met
NR_158212.1:n.2107T>G