Canonical Allele Identifier: CA496227845

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515390G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481487G>A , CM000678.2:g.70481487G>A	GRCh38
NC_000016.9:g.70515390G>A , CM000678.1:g.70515390G>A	GRCh37
NC_000016.8:g.69072891G>A	NCBI36
NG_027529.1:g.47068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2183C>T	ENSP00000461912.2:n.*2183C>T
ENST00000703106.1:c.2152C>T	ENSP00000515173.1:n.2152C>T
ENST00000703107.1:c.*2036C>T	ENSP00000515174.1:n.*2036C>T
ENST00000703108.1:c.*555C>T	ENSP00000515175.1:n.*555C>T
ENST00000703109.1:c.2140C>T	ENSP00000515176.1:p.Leu714=
ENST00000703110.1:c.*1609C>T	ENSP00000515177.1:n.*1609C>T
ENST00000703111.1:n.2390C>T
ENST00000703112.1:n.3051C>T
ENST00000703113.1:c.*1520C>T	ENSP00000515178.1:n.*1520C>T
ENST00000703114.1:c.*756C>T	ENSP00000515179.1:n.*756C>T
ENST00000703115.1:c.1220C>T	ENSP00000515180.1:n.1220C>T
ENST00000323786.10:c.2107C>T MANE Select	ENSP00000315775.5:p.Leu703=
ENST00000564415.6:c.*1887C>T	ENSP00000456653.2:n.*1887C>T
ENST00000674443.1:c.2032C>T	ENSP00000501405.1:p.Leu678=
ENST00000323786.9:c.2107C>T	ENSP00000315775.5:p.Leu703=
ENST00000393612.8:c.2044C>T	ENSP00000377236.5:p.Leu682=
ENST00000482252.5:c.2254C>T	ENSP00000432802.1:n.2254C>T
ENST00000526700.5:n.1283C>T
ENST00000530314.5:n.2786C>T
ENST00000564415.5:c.*1887C>T	ENSP00000456653.1:n.*1887C>T
ENST00000565715.1:c.169C>T	ENSP00000455693.1:p.Leu57=
NM_001195139.1:c.2044C>T	NP_001182068.1:p.Leu682=
NM_015386.2:c.2107C>T	NP_056201.2:p.Leu703=
XM_011522981.1:c.1681C>T	XP_011521283.1:p.Leu561=
XM_011522981.3:c.1681C>T	XP_011521283.1:p.Leu561=
XM_024450224.1:c.1126C>T	XP_024305992.1:p.Leu376=
XR_001751889.1:n.1990C>T
XR_933266.2:n.2053C>T
NM_015386.3:c.2107C>T MANE Select	NP_056201.2:p.Leu703=
NM_001195139.2:c.2032C>T	NP_001182068.2:p.Leu678=
NM_001365426.1:c.1681C>T	NP_001352355.1:p.Leu561=
NR_158212.1:n.2066C>T