Canonical Allele Identifier: CA396578424

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515357A>G (hg19) ; chr16:g.70481454A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481454A>G , CM000678.2:g.70481454A>G	GRCh38
NC_000016.9:g.70515357A>G , CM000678.1:g.70515357A>G	GRCh37
NC_000016.8:g.69072858A>G	NCBI36
NG_027529.1:g.47101T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2216T>C	ENSP00000461912.2:n.*2216T>C
ENST00000703106.1:c.2185T>C	ENSP00000515173.1:n.2185T>C
ENST00000703107.1:c.*2069T>C	ENSP00000515174.1:n.*2069T>C
ENST00000703108.1:c.*588T>C	ENSP00000515175.1:n.*588T>C
ENST00000703109.1:c.2173T>C	ENSP00000515176.1:p.Ser725Pro
ENST00000703110.1:c.*1642T>C	ENSP00000515177.1:n.*1642T>C
ENST00000703111.1:n.2423T>C
ENST00000703112.1:n.3084T>C
ENST00000703113.1:c.*1553T>C	ENSP00000515178.1:n.*1553T>C
ENST00000703114.1:c.*789T>C	ENSP00000515179.1:n.*789T>C
ENST00000703115.1:c.1253T>C	ENSP00000515180.1:n.1253T>C
ENST00000323786.10:c.2140T>C MANE Select	ENSP00000315775.5:p.Ser714Pro
ENST00000564415.6:c.*1920T>C	ENSP00000456653.2:n.*1920T>C
ENST00000674443.1:c.2065T>C	ENSP00000501405.1:p.Ser689Pro
ENST00000323786.9:c.2140T>C	ENSP00000315775.5:p.Ser714Pro
ENST00000393612.8:c.2077T>C	ENSP00000377236.5:p.Ser693Pro
ENST00000482252.5:c.2287T>C	ENSP00000432802.1:n.2287T>C
ENST00000526700.5:n.1316T>C
ENST00000530314.5:n.2819T>C
ENST00000564415.5:c.*1920T>C	ENSP00000456653.1:n.*1920T>C
ENST00000565715.1:c.202T>C	ENSP00000455693.1:p.Ser68Pro
NM_001195139.1:c.2077T>C	NP_001182068.1:p.Ser693Pro
NM_015386.2:c.2140T>C	NP_056201.2:p.Ser714Pro
XM_011522981.1:c.1714T>C	XP_011521283.1:p.Ser572Pro
XM_011522981.3:c.1714T>C	XP_011521283.1:p.Ser572Pro
XM_024450224.1:c.1159T>C	XP_024305992.1:p.Ser387Pro
XR_933266.2:n.2086T>C
NM_015386.3:c.2140T>C MANE Select	NP_056201.2:p.Ser714Pro
NM_001195139.2:c.2065T>C	NP_001182068.2:p.Ser689Pro
NM_001365426.1:c.1714T>C	NP_001352355.1:p.Ser572Pro
NR_158212.1:n.2099T>C