Canonical Allele Identifier: CA396580745

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517833C>A (hg19) ; chr16:g.70483930C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483930C>A , CM000678.2:g.70483930C>A	GRCh38
NC_000016.9:g.70517833C>A , CM000678.1:g.70517833C>A	GRCh37
NC_000016.8:g.69075334C>A	NCBI36
NG_027529.1:g.44625G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1826G>T	ENSP00000461912.2:n.*1826G>T
ENST00000703106.1:c.1795G>T	ENSP00000515173.1:n.1795G>T
ENST00000703107.1:c.*1679G>T	ENSP00000515174.1:n.*1679G>T
ENST00000703108.1:c.*198G>T	ENSP00000515175.1:n.*198G>T
ENST00000703109.1:c.1783G>T	ENSP00000515176.1:p.Glu595Ter
ENST00000703110.1:c.*1252G>T	ENSP00000515177.1:n.*1252G>T
ENST00000703111.1:n.1757G>T
ENST00000703112.1:n.2523G>T
ENST00000703113.1:c.*1163G>T	ENSP00000515178.1:n.*1163G>T
ENST00000703114.1:c.*399G>T	ENSP00000515179.1:n.*399G>T
ENST00000703115.1:c.863G>T	ENSP00000515180.1:n.863G>T
ENST00000323786.10:c.1750G>T MANE Select	ENSP00000315775.5:p.Glu584Ter
ENST00000564415.6:c.*1530G>T	ENSP00000456653.2:n.*1530G>T
ENST00000674443.1:c.1675G>T	ENSP00000501405.1:p.Glu559Ter
ENST00000323786.9:c.1750G>T	ENSP00000315775.5:p.Glu584Ter
ENST00000393612.8:c.1687G>T	ENSP00000377236.5:p.Glu563Ter
ENST00000482252.5:c.1897G>T	ENSP00000432802.1:n.1897G>T
ENST00000526700.5:n.926G>T
ENST00000530314.5:n.2429G>T
ENST00000564315.1:n.210G>T
ENST00000564415.5:c.*1530G>T	ENSP00000456653.1:n.*1530G>T
NM_001195139.1:c.1687G>T	NP_001182068.1:p.Glu563Ter
NM_015386.2:c.1750G>T	NP_056201.2:p.Glu584Ter
XM_011522981.1:c.1324G>T	XP_011521283.1:p.Glu442Ter
XR_933266.1:n.1696G>T
XR_933267.1:n.1696G>T
XM_011522981.3:c.1324G>T	XP_011521283.1:p.Glu442Ter
XM_024450224.1:c.769G>T	XP_024305992.1:p.Glu257Ter
XR_001751889.1:n.1633G>T
XR_933266.2:n.1696G>T
NM_015386.3:c.1750G>T MANE Select	NP_056201.2:p.Glu584Ter
NM_001195139.2:c.1675G>T	NP_001182068.2:p.Glu559Ter
NM_001365426.1:c.1324G>T	NP_001352355.1:p.Glu442Ter
NR_158212.1:n.1709G>T