Canonical Allele Identifier: CA396578581

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515377T>G (hg19) ; chr16:g.70481474T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481474T>G , CM000678.2:g.70481474T>G	GRCh38
NC_000016.9:g.70515377T>G , CM000678.1:g.70515377T>G	GRCh37
NC_000016.8:g.69072878T>G	NCBI36
NG_027529.1:g.47081A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2196A>C	ENSP00000461912.2:n.*2196A>C
ENST00000703106.1:c.2165A>C	ENSP00000515173.1:n.2165A>C
ENST00000703107.1:c.*2049A>C	ENSP00000515174.1:n.*2049A>C
ENST00000703108.1:c.*568A>C	ENSP00000515175.1:n.*568A>C
ENST00000703109.1:c.2153A>C	ENSP00000515176.1:p.Gln718Pro
ENST00000703110.1:c.*1622A>C	ENSP00000515177.1:n.*1622A>C
ENST00000703111.1:n.2403A>C
ENST00000703112.1:n.3064A>C
ENST00000703113.1:c.*1533A>C	ENSP00000515178.1:n.*1533A>C
ENST00000703114.1:c.*769A>C	ENSP00000515179.1:n.*769A>C
ENST00000703115.1:c.1233A>C	ENSP00000515180.1:n.1233A>C
ENST00000323786.10:c.2120A>C MANE Select	ENSP00000315775.5:p.Gln707Pro
ENST00000564415.6:c.*1900A>C	ENSP00000456653.2:n.*1900A>C
ENST00000674443.1:c.2045A>C	ENSP00000501405.1:p.Gln682Pro
ENST00000323786.9:c.2120A>C	ENSP00000315775.5:p.Gln707Pro
ENST00000393612.8:c.2057A>C	ENSP00000377236.5:p.Gln686Pro
ENST00000482252.5:c.2267A>C	ENSP00000432802.1:n.2267A>C
ENST00000526700.5:n.1296A>C
ENST00000530314.5:n.2799A>C
ENST00000564415.5:c.*1900A>C	ENSP00000456653.1:n.*1900A>C
ENST00000565715.1:c.182A>C	ENSP00000455693.1:p.Gln61Pro
NM_001195139.1:c.2057A>C	NP_001182068.1:p.Gln686Pro
NM_015386.2:c.2120A>C	NP_056201.2:p.Gln707Pro
XM_011522981.1:c.1694A>C	XP_011521283.1:p.Gln565Pro
XM_011522981.3:c.1694A>C	XP_011521283.1:p.Gln565Pro
XM_024450224.1:c.1139A>C	XP_024305992.1:p.Gln380Pro
XR_001751889.1:n.2003A>C
XR_933266.2:n.2066A>C
NM_015386.3:c.2120A>C MANE Select	NP_056201.2:p.Gln707Pro
NM_001195139.2:c.2045A>C	NP_001182068.2:p.Gln682Pro
NM_001365426.1:c.1694A>C	NP_001352355.1:p.Gln565Pro
NR_158212.1:n.2079A>C