Canonical Allele Identifier: CA396578191

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515323C>A (hg19) ; chr16:g.70481420C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481420C>A , CM000678.2:g.70481420C>A	GRCh38
NC_000016.9:g.70515323C>A , CM000678.1:g.70515323C>A	GRCh37
NC_000016.8:g.69072824C>A	NCBI36
NG_027529.1:g.47135G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2250G>T	ENSP00000461912.2:n.*2250G>T
ENST00000703106.1:c.2219G>T	ENSP00000515173.1:n.2219G>T
ENST00000703107.1:c.*2103G>T	ENSP00000515174.1:n.*2103G>T
ENST00000703108.1:c.*622G>T	ENSP00000515175.1:n.*622G>T
ENST00000703109.1:c.2207G>T	ENSP00000515176.1:p.Trp736Leu
ENST00000703110.1:c.*1676G>T	ENSP00000515177.1:n.*1676G>T
ENST00000703111.1:n.2457G>T
ENST00000703112.1:n.3118G>T
ENST00000703113.1:c.*1587G>T	ENSP00000515178.1:n.*1587G>T
ENST00000703114.1:c.*823G>T	ENSP00000515179.1:n.*823G>T
ENST00000703115.1:c.1287G>T	ENSP00000515180.1:n.1287G>T
ENST00000323786.10:c.2174G>T MANE Select	ENSP00000315775.5:p.Trp725Leu
ENST00000564415.6:c.*1954G>T	ENSP00000456653.2:n.*1954G>T
ENST00000674443.1:c.2099G>T	ENSP00000501405.1:p.Trp700Leu
ENST00000323786.9:c.2174G>T	ENSP00000315775.5:p.Trp725Leu
ENST00000393612.8:c.2111G>T	ENSP00000377236.5:p.Trp704Leu
ENST00000482252.5:c.2321G>T	ENSP00000432802.1:n.2321G>T
ENST00000526700.5:n.1350G>T
ENST00000530314.5:n.2853G>T
ENST00000564415.5:c.*1954G>T	ENSP00000456653.1:n.*1954G>T
ENST00000565715.1:c.236G>T	ENSP00000455693.1:p.Trp79Leu
NM_001195139.1:c.2111G>T	NP_001182068.1:p.Trp704Leu
NM_015386.2:c.2174G>T	NP_056201.2:p.Trp725Leu
XM_011522981.1:c.1748G>T	XP_011521283.1:p.Trp583Leu
XM_011522981.3:c.1748G>T	XP_011521283.1:p.Trp583Leu
XM_024450224.1:c.1193G>T	XP_024305992.1:p.Trp398Leu
XR_933266.2:n.2120G>T
NM_015386.3:c.2174G>T MANE Select	NP_056201.2:p.Trp725Leu
NM_001195139.2:c.2099G>T	NP_001182068.2:p.Trp700Leu
NM_001365426.1:c.1748G>T	NP_001352355.1:p.Trp583Leu
NR_158212.1:n.2133G>T