Canonical Allele Identifier: CA396578286

Gene: COG4

Linked Data

• gnomAD v4: 16-70481435-G-A
• MyVariant Identifiers: chr16:g.70515338G>A (hg19) ; chr16:g.70481435G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481435G>A , CM000678.2:g.70481435G>A	GRCh38
NC_000016.9:g.70515338G>A , CM000678.1:g.70515338G>A	GRCh37
NC_000016.8:g.69072839G>A	NCBI36
NG_027529.1:g.47120C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2235C>T	ENSP00000461912.2:n.*2235C>T
ENST00000703106.1:c.2204C>T	ENSP00000515173.1:n.2204C>T
ENST00000703107.1:c.*2088C>T	ENSP00000515174.1:n.*2088C>T
ENST00000703108.1:c.*607C>T	ENSP00000515175.1:n.*607C>T
ENST00000703109.1:c.2192C>T	ENSP00000515176.1:p.Thr731Ile
ENST00000703110.1:c.*1661C>T	ENSP00000515177.1:n.*1661C>T
ENST00000703111.1:n.2442C>T
ENST00000703112.1:n.3103C>T
ENST00000703113.1:c.*1572C>T	ENSP00000515178.1:n.*1572C>T
ENST00000703114.1:c.*808C>T	ENSP00000515179.1:n.*808C>T
ENST00000703115.1:c.1272C>T	ENSP00000515180.1:n.1272C>T
ENST00000323786.10:c.2159C>T MANE Select	ENSP00000315775.5:p.Thr720Ile
ENST00000564415.6:c.*1939C>T	ENSP00000456653.2:n.*1939C>T
ENST00000674443.1:c.2084C>T	ENSP00000501405.1:p.Thr695Ile
ENST00000323786.9:c.2159C>T	ENSP00000315775.5:p.Thr720Ile
ENST00000393612.8:c.2096C>T	ENSP00000377236.5:p.Thr699Ile
ENST00000482252.5:c.2306C>T	ENSP00000432802.1:n.2306C>T
ENST00000526700.5:n.1335C>T
ENST00000530314.5:n.2838C>T
ENST00000564415.5:c.*1939C>T	ENSP00000456653.1:n.*1939C>T
ENST00000565715.1:c.221C>T	ENSP00000455693.1:p.Thr74Ile
NM_001195139.1:c.2096C>T	NP_001182068.1:p.Thr699Ile
NM_015386.2:c.2159C>T	NP_056201.2:p.Thr720Ile
XM_011522981.1:c.1733C>T	XP_011521283.1:p.Thr578Ile
XM_011522981.3:c.1733C>T	XP_011521283.1:p.Thr578Ile
XM_024450224.1:c.1178C>T	XP_024305992.1:p.Thr393Ile
XR_933266.2:n.2105C>T
NM_015386.3:c.2159C>T MANE Select	NP_056201.2:p.Thr720Ile
NM_001195139.2:c.2084C>T	NP_001182068.2:p.Thr695Ile
NM_001365426.1:c.1733C>T	NP_001352355.1:p.Thr578Ile
NR_158212.1:n.2118C>T