Canonical Allele Identifier: CA2634065629

Gene: COG4

Linked Data

• gnomAD v4: 16-70481493-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481493G>A , CM000678.2:g.70481493G>A	GRCh38
NC_000016.9:g.70515396G>A , CM000678.1:g.70515396G>A	GRCh37
NC_000016.8:g.69072897G>A	NCBI36
NG_027529.1:g.47062C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2183-6C>T	ENSP00000461912.2:n.*2183-6C>T
ENST00000703106.1:c.2152-6C>T	ENSP00000515173.1:n.2152-6C>T
ENST00000703107.1:c.*2036-6C>T	ENSP00000515174.1:n.*2036-6C>T
ENST00000703108.1:c.*555-6C>T	ENSP00000515175.1:n.*555-6C>T
ENST00000703109.1:c.2140-6C>T	ENSP00000515176.1:n.2140-6C>T
ENST00000703110.1:c.*1609-6C>T	ENSP00000515177.1:n.*1609-6C>T
ENST00000703111.1:n.2384C>T
ENST00000703112.1:n.3045C>T
ENST00000703113.1:c.*1520-6C>T	ENSP00000515178.1:n.*1520-6C>T
ENST00000703114.1:c.*756-6C>T	ENSP00000515179.1:n.*756-6C>T
ENST00000703115.1:c.1220-6C>T	ENSP00000515180.1:n.1220-6C>T
ENST00000323786.10:c.2107-6C>T MANE Select	ENSP00000315775.5:n.2107-6C>T
ENST00000564415.6:c.*1887-6C>T	ENSP00000456653.2:n.*1887-6C>T
ENST00000674443.1:c.2032-6C>T	ENSP00000501405.1:n.2032-6C>T
ENST00000323786.9:c.2107-6C>T	ENSP00000315775.5:n.2107-6C>T
ENST00000393612.8:c.2044-6C>T	ENSP00000377236.5:n.2044-6C>T
ENST00000482252.5:c.2254-6C>T	ENSP00000432802.1:n.2254-6C>T
ENST00000526700.5:n.1283-6C>T
ENST00000530314.5:n.2786-6C>T
ENST00000564415.5:c.*1887-6C>T	ENSP00000456653.1:n.*1887-6C>T
ENST00000565715.1:c.169-6C>T	ENSP00000455693.1:n.169-6C>T
NM_001195139.1:c.2044-6C>T	NP_001182068.1:n.2044-6C>T
NM_015386.2:c.2107-6C>T	NP_056201.2:n.2107-6C>T
XM_011522981.1:c.1681-6C>T	XP_011521283.1:n.1681-6C>T
XM_011522981.3:c.1681-6C>T	XP_011521283.1:n.1681-6C>T
XM_024450224.1:c.1126-6C>T	XP_024305992.1:n.1126-6C>T
XR_001751889.1:n.1990-6C>T
XR_933266.2:n.2053-6C>T
NM_015386.3:c.2107-6C>T MANE Select	NP_056201.2:n.2107-6C>T
NM_001195139.2:c.2032-6C>T	NP_001182068.2:n.2032-6C>T
NM_001365426.1:c.1681-6C>T	NP_001352355.1:n.1681-6C>T
NR_158212.1:n.2066-6C>T