Canonical Allele Identifier: CA396578403

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515354G>T (hg19) ; chr16:g.70481451G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481451G>T , CM000678.2:g.70481451G>T	GRCh38
NC_000016.9:g.70515354G>T , CM000678.1:g.70515354G>T	GRCh37
NC_000016.8:g.69072855G>T	NCBI36
NG_027529.1:g.47104C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2219C>A	ENSP00000461912.2:n.*2219C>A
ENST00000703106.1:c.2188C>A	ENSP00000515173.1:n.2188C>A
ENST00000703107.1:c.*2072C>A	ENSP00000515174.1:n.*2072C>A
ENST00000703108.1:c.*591C>A	ENSP00000515175.1:n.*591C>A
ENST00000703109.1:c.2176C>A	ENSP00000515176.1:p.Leu726Ile
ENST00000703110.1:c.*1645C>A	ENSP00000515177.1:n.*1645C>A
ENST00000703111.1:n.2426C>A
ENST00000703112.1:n.3087C>A
ENST00000703113.1:c.*1556C>A	ENSP00000515178.1:n.*1556C>A
ENST00000703114.1:c.*792C>A	ENSP00000515179.1:n.*792C>A
ENST00000703115.1:c.1256C>A	ENSP00000515180.1:n.1256C>A
ENST00000323786.10:c.2143C>A MANE Select	ENSP00000315775.5:p.Leu715Ile
ENST00000564415.6:c.*1923C>A	ENSP00000456653.2:n.*1923C>A
ENST00000674443.1:c.2068C>A	ENSP00000501405.1:p.Leu690Ile
ENST00000323786.9:c.2143C>A	ENSP00000315775.5:p.Leu715Ile
ENST00000393612.8:c.2080C>A	ENSP00000377236.5:p.Leu694Ile
ENST00000482252.5:c.2290C>A	ENSP00000432802.1:n.2290C>A
ENST00000526700.5:n.1319C>A
ENST00000530314.5:n.2822C>A
ENST00000564415.5:c.*1923C>A	ENSP00000456653.1:n.*1923C>A
ENST00000565715.1:c.205C>A	ENSP00000455693.1:p.Leu69Ile
NM_001195139.1:c.2080C>A	NP_001182068.1:p.Leu694Ile
NM_015386.2:c.2143C>A	NP_056201.2:p.Leu715Ile
XM_011522981.1:c.1717C>A	XP_011521283.1:p.Leu573Ile
XM_011522981.3:c.1717C>A	XP_011521283.1:p.Leu573Ile
XM_024450224.1:c.1162C>A	XP_024305992.1:p.Leu388Ile
XR_933266.2:n.2089C>A
NM_015386.3:c.2143C>A MANE Select	NP_056201.2:p.Leu715Ile
NM_001195139.2:c.2068C>A	NP_001182068.2:p.Leu690Ile
NM_001365426.1:c.1717C>A	NP_001352355.1:p.Leu573Ile
NR_158212.1:n.2102C>A