Canonical Allele Identifier: CA396578572

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515376C>A (hg19) ; chr16:g.70481473C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481473C>A , CM000678.2:g.70481473C>A	GRCh38
NC_000016.9:g.70515376C>A , CM000678.1:g.70515376C>A	GRCh37
NC_000016.8:g.69072877C>A	NCBI36
NG_027529.1:g.47082G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2197G>T	ENSP00000461912.2:n.*2197G>T
ENST00000703106.1:c.2166G>T	ENSP00000515173.1:n.2166G>T
ENST00000703107.1:c.*2050G>T	ENSP00000515174.1:n.*2050G>T
ENST00000703108.1:c.*569G>T	ENSP00000515175.1:n.*569G>T
ENST00000703109.1:c.2154G>T	ENSP00000515176.1:p.Gln718His
ENST00000703110.1:c.*1623G>T	ENSP00000515177.1:n.*1623G>T
ENST00000703111.1:n.2404G>T
ENST00000703112.1:n.3065G>T
ENST00000703113.1:c.*1534G>T	ENSP00000515178.1:n.*1534G>T
ENST00000703114.1:c.*770G>T	ENSP00000515179.1:n.*770G>T
ENST00000703115.1:c.1234G>T	ENSP00000515180.1:n.1234G>T
ENST00000323786.10:c.2121G>T MANE Select	ENSP00000315775.5:p.Gln707His
ENST00000564415.6:c.*1901G>T	ENSP00000456653.2:n.*1901G>T
ENST00000674443.1:c.2046G>T	ENSP00000501405.1:p.Gln682His
ENST00000323786.9:c.2121G>T	ENSP00000315775.5:p.Gln707His
ENST00000393612.8:c.2058G>T	ENSP00000377236.5:p.Gln686His
ENST00000482252.5:c.2268G>T	ENSP00000432802.1:n.2268G>T
ENST00000526700.5:n.1297G>T
ENST00000530314.5:n.2800G>T
ENST00000564415.5:c.*1901G>T	ENSP00000456653.1:n.*1901G>T
ENST00000565715.1:c.183G>T	ENSP00000455693.1:p.Gln61His
NM_001195139.1:c.2058G>T	NP_001182068.1:p.Gln686His
NM_015386.2:c.2121G>T	NP_056201.2:p.Gln707His
XM_011522981.1:c.1695G>T	XP_011521283.1:p.Gln565His
XM_011522981.3:c.1695G>T	XP_011521283.1:p.Gln565His
XM_024450224.1:c.1140G>T	XP_024305992.1:p.Gln380His
XR_001751889.1:n.2004G>T
XR_933266.2:n.2067G>T
NM_015386.3:c.2121G>T MANE Select	NP_056201.2:p.Gln707His
NM_001195139.2:c.2046G>T	NP_001182068.2:p.Gln682His
NM_001365426.1:c.1695G>T	NP_001352355.1:p.Gln565His
NR_158212.1:n.2080G>T