Canonical Allele Identifier: CA496227802

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515331C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481428C>A , CM000678.2:g.70481428C>A	GRCh38
NC_000016.9:g.70515331C>A , CM000678.1:g.70515331C>A	GRCh37
NC_000016.8:g.69072832C>A	NCBI36
NG_027529.1:g.47127G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2242G>T	ENSP00000461912.2:n.*2242G>T
ENST00000703106.1:c.2211G>T	ENSP00000515173.1:n.2211G>T
ENST00000703107.1:c.*2095G>T	ENSP00000515174.1:n.*2095G>T
ENST00000703108.1:c.*614G>T	ENSP00000515175.1:n.*614G>T
ENST00000703109.1:c.2199G>T	ENSP00000515176.1:p.Val733=
ENST00000703110.1:c.*1668G>T	ENSP00000515177.1:n.*1668G>T
ENST00000703111.1:n.2449G>T
ENST00000703112.1:n.3110G>T
ENST00000703113.1:c.*1579G>T	ENSP00000515178.1:n.*1579G>T
ENST00000703114.1:c.*815G>T	ENSP00000515179.1:n.*815G>T
ENST00000703115.1:c.1279G>T	ENSP00000515180.1:n.1279G>T
ENST00000323786.10:c.2166G>T MANE Select	ENSP00000315775.5:p.Val722=
ENST00000564415.6:c.*1946G>T	ENSP00000456653.2:n.*1946G>T
ENST00000674443.1:c.2091G>T	ENSP00000501405.1:p.Val697=
ENST00000323786.9:c.2166G>T	ENSP00000315775.5:p.Val722=
ENST00000393612.8:c.2103G>T	ENSP00000377236.5:p.Val701=
ENST00000482252.5:c.2313G>T	ENSP00000432802.1:n.2313G>T
ENST00000526700.5:n.1342G>T
ENST00000530314.5:n.2845G>T
ENST00000564415.5:c.*1946G>T	ENSP00000456653.1:n.*1946G>T
ENST00000565715.1:c.228G>T	ENSP00000455693.1:p.Val76=
NM_001195139.1:c.2103G>T	NP_001182068.1:p.Val701=
NM_015386.2:c.2166G>T	NP_056201.2:p.Val722=
XM_011522981.1:c.1740G>T	XP_011521283.1:p.Val580=
XM_011522981.3:c.1740G>T	XP_011521283.1:p.Val580=
XM_024450224.1:c.1185G>T	XP_024305992.1:p.Val395=
XR_933266.2:n.2112G>T
NM_015386.3:c.2166G>T MANE Select	NP_056201.2:p.Val722=
NM_001195139.2:c.2091G>T	NP_001182068.2:p.Val697=
NM_001365426.1:c.1740G>T	NP_001352355.1:p.Val580=
NR_158212.1:n.2125G>T