Canonical Allele Identifier: CA396578431

Gene: COG4

Linked Data

• gnomAD v4: 16-70481455-C-A
• MyVariant Identifiers: chr16:g.70515358C>A (hg19) ; chr16:g.70481455C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481455C>A , CM000678.2:g.70481455C>A	GRCh38
NC_000016.9:g.70515358C>A , CM000678.1:g.70515358C>A	GRCh37
NC_000016.8:g.69072859C>A	NCBI36
NG_027529.1:g.47100G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2215G>T	ENSP00000461912.2:n.*2215G>T
ENST00000703106.1:c.2184G>T	ENSP00000515173.1:n.2184G>T
ENST00000703107.1:c.*2068G>T	ENSP00000515174.1:n.*2068G>T
ENST00000703108.1:c.*587G>T	ENSP00000515175.1:n.*587G>T
ENST00000703109.1:c.2172G>T	ENSP00000515176.1:p.Arg724Ser
ENST00000703110.1:c.*1641G>T	ENSP00000515177.1:n.*1641G>T
ENST00000703111.1:n.2422G>T
ENST00000703112.1:n.3083G>T
ENST00000703113.1:c.*1552G>T	ENSP00000515178.1:n.*1552G>T
ENST00000703114.1:c.*788G>T	ENSP00000515179.1:n.*788G>T
ENST00000703115.1:c.1252G>T	ENSP00000515180.1:n.1252G>T
ENST00000323786.10:c.2139G>T MANE Select	ENSP00000315775.5:p.Arg713Ser
ENST00000564415.6:c.*1919G>T	ENSP00000456653.2:n.*1919G>T
ENST00000674443.1:c.2064G>T	ENSP00000501405.1:p.Arg688Ser
ENST00000323786.9:c.2139G>T	ENSP00000315775.5:p.Arg713Ser
ENST00000393612.8:c.2076G>T	ENSP00000377236.5:p.Arg692Ser
ENST00000482252.5:c.2286G>T	ENSP00000432802.1:n.2286G>T
ENST00000526700.5:n.1315G>T
ENST00000530314.5:n.2818G>T
ENST00000564415.5:c.*1919G>T	ENSP00000456653.1:n.*1919G>T
ENST00000565715.1:c.201G>T	ENSP00000455693.1:p.Arg67Ser
NM_001195139.1:c.2076G>T	NP_001182068.1:p.Arg692Ser
NM_015386.2:c.2139G>T	NP_056201.2:p.Arg713Ser
XM_011522981.1:c.1713G>T	XP_011521283.1:p.Arg571Ser
XM_011522981.3:c.1713G>T	XP_011521283.1:p.Arg571Ser
XM_024450224.1:c.1158G>T	XP_024305992.1:p.Arg386Ser
XR_933266.2:n.2085G>T
NM_015386.3:c.2139G>T MANE Select	NP_056201.2:p.Arg713Ser
NM_001195139.2:c.2064G>T	NP_001182068.2:p.Arg688Ser
NM_001365426.1:c.1713G>T	NP_001352355.1:p.Arg571Ser
NR_158212.1:n.2098G>T