Canonical Allele Identifier: CA396578395
Gene: COG4 HGNC NCBI

Linked Data

dbSNP Id: rs1173143878

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70481450A>C , CM000678.2:g.70481450A>C GRCh38
NC_000016.9:g.70515353A>C , CM000678.1:g.70515353A>C GRCh37
NC_000016.8:g.69072854A>C NCBI36
NG_027529.1:g.47105T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000534772.2:c.*2220T>G ENSP00000461912.2:n.*2220T>G
ENST00000703106.1:c.2189T>G ENSP00000515173.1:n.2189T>G
ENST00000703107.1:c.*2073T>G ENSP00000515174.1:n.*2073T>G
ENST00000703108.1:c.*592T>G ENSP00000515175.1:n.*592T>G
ENST00000703109.1:c.2177T>G ENSP00000515176.1:p.Leu726Arg
ENST00000703110.1:c.*1646T>G ENSP00000515177.1:n.*1646T>G
ENST00000703111.1:n.2427T>G
ENST00000703112.1:n.3088T>G
ENST00000703113.1:c.*1557T>G ENSP00000515178.1:n.*1557T>G
ENST00000703114.1:c.*793T>G ENSP00000515179.1:n.*793T>G
ENST00000703115.1:c.1257T>G ENSP00000515180.1:n.1257T>G
ENST00000323786.10:c.2144T>G MANE Select ENSP00000315775.5:p.Leu715Arg
ENST00000564415.6:c.*1924T>G ENSP00000456653.2:n.*1924T>G
ENST00000674443.1:c.2069T>G ENSP00000501405.1:p.Leu690Arg
ENST00000323786.9:c.2144T>G ENSP00000315775.5:p.Leu715Arg
ENST00000393612.8:c.2081T>G ENSP00000377236.5:p.Leu694Arg
ENST00000482252.5:c.2291T>G ENSP00000432802.1:n.2291T>G
ENST00000526700.5:n.1320T>G
ENST00000530314.5:n.2823T>G
ENST00000564415.5:c.*1924T>G ENSP00000456653.1:n.*1924T>G
ENST00000565715.1:c.206T>G ENSP00000455693.1:p.Leu69Arg
NM_001195139.1:c.2081T>G NP_001182068.1:p.Leu694Arg
NM_015386.2:c.2144T>G NP_056201.2:p.Leu715Arg
XM_011522981.1:c.1718T>G XP_011521283.1:p.Leu573Arg
XM_011522981.3:c.1718T>G XP_011521283.1:p.Leu573Arg
XM_024450224.1:c.1163T>G XP_024305992.1:p.Leu388Arg
XR_933266.2:n.2090T>G
NM_015386.3:c.2144T>G MANE Select NP_056201.2:p.Leu715Arg
NM_001195139.2:c.2069T>G NP_001182068.2:p.Leu690Arg
NM_001365426.1:c.1718T>G NP_001352355.1:p.Leu573Arg
NR_158212.1:n.2103T>G