Canonical Allele Identifier: CA396580631

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517782A>G (hg19) ; chr16:g.70483879A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483879A>G , CM000678.2:g.70483879A>G	GRCh38
NC_000016.9:g.70517782A>G , CM000678.1:g.70517782A>G	GRCh37
NC_000016.8:g.69075283A>G	NCBI36
NG_027529.1:g.44676T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000534772.2:c.*1877T>C	ENSP00000461912.2:n.*1877T>C
ENST00000703106.1:c.1846T>C	ENSP00000515173.1:n.1846T>C
ENST00000703107.1:c.*1730T>C	ENSP00000515174.1:n.*1730T>C
ENST00000703108.1:c.*249T>C	ENSP00000515175.1:n.*249T>C
ENST00000703109.1:c.1834T>C	ENSP00000515176.1:p.Ser612Pro
ENST00000703110.1:c.*1303T>C	ENSP00000515177.1:n.*1303T>C
ENST00000703111.1:n.1808T>C
ENST00000703112.1:n.2574T>C
ENST00000703113.1:c.*1214T>C	ENSP00000515178.1:n.*1214T>C
ENST00000703114.1:c.*450T>C	ENSP00000515179.1:n.*450T>C
ENST00000703115.1:c.914T>C	ENSP00000515180.1:n.914T>C
ENST00000323786.10:c.1801T>C MANE Select	ENSP00000315775.5:p.Ser601Pro
ENST00000564415.6:c.*1581T>C	ENSP00000456653.2:n.*1581T>C
ENST00000674443.1:c.1726T>C	ENSP00000501405.1:p.Ser576Pro
ENST00000323786.9:c.1801T>C	ENSP00000315775.5:p.Ser601Pro
ENST00000393612.8:c.1738T>C	ENSP00000377236.5:p.Ser580Pro
ENST00000482252.5:c.1948T>C	ENSP00000432802.1:n.1948T>C
ENST00000526700.5:n.977T>C
ENST00000530314.5:n.2480T>C
ENST00000564315.1:n.261T>C
ENST00000564415.5:c.*1581T>C	ENSP00000456653.1:n.*1581T>C
NM_001195139.1:c.1738T>C	NP_001182068.1:p.Ser580Pro
NM_015386.2:c.1801T>C	NP_056201.2:p.Ser601Pro
XM_011522981.1:c.1375T>C	XP_011521283.1:p.Ser459Pro
XR_933266.1:n.1747T>C
XR_933267.1:n.1747T>C
XM_011522981.3:c.1375T>C	XP_011521283.1:p.Ser459Pro
XM_024450224.1:c.820T>C	XP_024305992.1:p.Ser274Pro
XR_001751889.1:n.1684T>C
XR_933266.2:n.1747T>C
NM_015386.3:c.1801T>C MANE Select	NP_056201.2:p.Ser601Pro
NM_001195139.2:c.1726T>C	NP_001182068.2:p.Ser576Pro
NM_001365426.1:c.1375T>C	NP_001352355.1:p.Ser459Pro
NR_158212.1:n.1760T>C