Canonical Allele Identifier: CA396578635

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515389A>G (hg19) ; chr16:g.70481486A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481486A>G , CM000678.2:g.70481486A>G	GRCh38
NC_000016.9:g.70515389A>G , CM000678.1:g.70515389A>G	GRCh37
NC_000016.8:g.69072890A>G	NCBI36
NG_027529.1:g.47069T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2184T>C	ENSP00000461912.2:n.*2184T>C
ENST00000703106.1:c.2153T>C	ENSP00000515173.1:n.2153T>C
ENST00000703107.1:c.*2037T>C	ENSP00000515174.1:n.*2037T>C
ENST00000703108.1:c.*556T>C	ENSP00000515175.1:n.*556T>C
ENST00000703109.1:c.2141T>C	ENSP00000515176.1:p.Leu714Pro
ENST00000703110.1:c.*1610T>C	ENSP00000515177.1:n.*1610T>C
ENST00000703111.1:n.2391T>C
ENST00000703112.1:n.3052T>C
ENST00000703113.1:c.*1521T>C	ENSP00000515178.1:n.*1521T>C
ENST00000703114.1:c.*757T>C	ENSP00000515179.1:n.*757T>C
ENST00000703115.1:c.1221T>C	ENSP00000515180.1:n.1221T>C
ENST00000323786.10:c.2108T>C MANE Select	ENSP00000315775.5:p.Leu703Pro
ENST00000564415.6:c.*1888T>C	ENSP00000456653.2:n.*1888T>C
ENST00000674443.1:c.2033T>C	ENSP00000501405.1:p.Leu678Pro
ENST00000323786.9:c.2108T>C	ENSP00000315775.5:p.Leu703Pro
ENST00000393612.8:c.2045T>C	ENSP00000377236.5:p.Leu682Pro
ENST00000482252.5:c.2255T>C	ENSP00000432802.1:n.2255T>C
ENST00000526700.5:n.1284T>C
ENST00000530314.5:n.2787T>C
ENST00000564415.5:c.*1888T>C	ENSP00000456653.1:n.*1888T>C
ENST00000565715.1:c.170T>C	ENSP00000455693.1:p.Leu57Pro
NM_001195139.1:c.2045T>C	NP_001182068.1:p.Leu682Pro
NM_015386.2:c.2108T>C	NP_056201.2:p.Leu703Pro
XM_011522981.1:c.1682T>C	XP_011521283.1:p.Leu561Pro
XM_011522981.3:c.1682T>C	XP_011521283.1:p.Leu561Pro
XM_024450224.1:c.1127T>C	XP_024305992.1:p.Leu376Pro
XR_001751889.1:n.1991T>C
XR_933266.2:n.2054T>C
NM_015386.3:c.2108T>C MANE Select	NP_056201.2:p.Leu703Pro
NM_001195139.2:c.2033T>C	NP_001182068.2:p.Leu678Pro
NM_001365426.1:c.1682T>C	NP_001352355.1:p.Leu561Pro
NR_158212.1:n.2067T>C