Canonical Allele Identifier: CA396578157

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515318T>A (hg19) ; chr16:g.70481415T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481415T>A , CM000678.2:g.70481415T>A	GRCh38
NC_000016.9:g.70515318T>A , CM000678.1:g.70515318T>A	GRCh37
NC_000016.8:g.69072819T>A	NCBI36
NG_027529.1:g.47140A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2255A>T	ENSP00000461912.2:n.*2255A>T
ENST00000703106.1:c.2224A>T	ENSP00000515173.1:n.2224A>T
ENST00000703107.1:c.*2108A>T	ENSP00000515174.1:n.*2108A>T
ENST00000703108.1:c.*627A>T	ENSP00000515175.1:n.*627A>T
ENST00000703109.1:c.2212A>T	ENSP00000515176.1:p.Ile738Phe
ENST00000703110.1:c.*1681A>T	ENSP00000515177.1:n.*1681A>T
ENST00000703111.1:n.2462A>T
ENST00000703112.1:n.3123A>T
ENST00000703113.1:c.*1592A>T	ENSP00000515178.1:n.*1592A>T
ENST00000703114.1:c.*828A>T	ENSP00000515179.1:n.*828A>T
ENST00000703115.1:c.1292A>T	ENSP00000515180.1:n.1292A>T
ENST00000323786.10:c.2179A>T MANE Select	ENSP00000315775.5:p.Ile727Phe
ENST00000564415.6:c.*1959A>T	ENSP00000456653.2:n.*1959A>T
ENST00000674443.1:c.2104A>T	ENSP00000501405.1:p.Ile702Phe
ENST00000323786.9:c.2179A>T	ENSP00000315775.5:p.Ile727Phe
ENST00000393612.8:c.2116A>T	ENSP00000377236.5:p.Ile706Phe
ENST00000482252.5:c.2326A>T	ENSP00000432802.1:n.2326A>T
ENST00000526700.5:n.1355A>T
ENST00000530314.5:n.2858A>T
ENST00000564415.5:c.*1959A>T	ENSP00000456653.1:n.*1959A>T
ENST00000565715.1:c.241A>T	ENSP00000455693.1:p.Ile81Phe
NM_001195139.1:c.2116A>T	NP_001182068.1:p.Ile706Phe
NM_015386.2:c.2179A>T	NP_056201.2:p.Ile727Phe
XM_011522981.1:c.1753A>T	XP_011521283.1:p.Ile585Phe
XM_011522981.3:c.1753A>T	XP_011521283.1:p.Ile585Phe
XM_024450224.1:c.1198A>T	XP_024305992.1:p.Ile400Phe
XR_933266.2:n.2125A>T
NM_015386.3:c.2179A>T MANE Select	NP_056201.2:p.Ile727Phe
NM_001195139.2:c.2104A>T	NP_001182068.2:p.Ile702Phe
NM_001365426.1:c.1753A>T	NP_001352355.1:p.Ile585Phe
NR_158212.1:n.2138A>T