Canonical Allele Identifier: CA396580650

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517792C>G (hg19) ; chr16:g.70483889C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483889C>G , CM000678.2:g.70483889C>G	GRCh38
NC_000016.9:g.70517792C>G , CM000678.1:g.70517792C>G	GRCh37
NC_000016.8:g.69075293C>G	NCBI36
NG_027529.1:g.44666G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1867G>C	ENSP00000461912.2:n.*1867G>C
ENST00000703106.1:c.1836G>C	ENSP00000515173.1:n.1836G>C
ENST00000703107.1:c.*1720G>C	ENSP00000515174.1:n.*1720G>C
ENST00000703108.1:c.*239G>C	ENSP00000515175.1:n.*239G>C
ENST00000703109.1:c.1824G>C	ENSP00000515176.1:p.Leu608Phe
ENST00000703110.1:c.*1293G>C	ENSP00000515177.1:n.*1293G>C
ENST00000703111.1:n.1798G>C
ENST00000703112.1:n.2564G>C
ENST00000703113.1:c.*1204G>C	ENSP00000515178.1:n.*1204G>C
ENST00000703114.1:c.*440G>C	ENSP00000515179.1:n.*440G>C
ENST00000703115.1:c.904G>C	ENSP00000515180.1:n.904G>C
ENST00000323786.10:c.1791G>C MANE Select	ENSP00000315775.5:p.Leu597Phe
ENST00000564415.6:c.*1571G>C	ENSP00000456653.2:n.*1571G>C
ENST00000674443.1:c.1716G>C	ENSP00000501405.1:p.Leu572Phe
ENST00000323786.9:c.1791G>C	ENSP00000315775.5:p.Leu597Phe
ENST00000393612.8:c.1728G>C	ENSP00000377236.5:p.Leu576Phe
ENST00000482252.5:c.1938G>C	ENSP00000432802.1:n.1938G>C
ENST00000526700.5:n.967G>C
ENST00000530314.5:n.2470G>C
ENST00000564315.1:n.251G>C
ENST00000564415.5:c.*1571G>C	ENSP00000456653.1:n.*1571G>C
NM_001195139.1:c.1728G>C	NP_001182068.1:p.Leu576Phe
NM_015386.2:c.1791G>C	NP_056201.2:p.Leu597Phe
XM_011522981.1:c.1365G>C	XP_011521283.1:p.Leu455Phe
XR_933266.1:n.1737G>C
XR_933267.1:n.1737G>C
XM_011522981.3:c.1365G>C	XP_011521283.1:p.Leu455Phe
XM_024450224.1:c.810G>C	XP_024305992.1:p.Leu270Phe
XR_001751889.1:n.1674G>C
XR_933266.2:n.1737G>C
NM_015386.3:c.1791G>C MANE Select	NP_056201.2:p.Leu597Phe
NM_001195139.2:c.1716G>C	NP_001182068.2:p.Leu572Phe
NM_001365426.1:c.1365G>C	NP_001352355.1:p.Leu455Phe
NR_158212.1:n.1750G>C