Canonical Allele Identifier: CA496228672

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517783C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483880C>A , CM000678.2:g.70483880C>A	GRCh38
NC_000016.9:g.70517783C>A , CM000678.1:g.70517783C>A	GRCh37
NC_000016.8:g.69075284C>A	NCBI36
NG_027529.1:g.44675G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1876G>T	ENSP00000461912.2:n.*1876G>T
ENST00000703106.1:c.1845G>T	ENSP00000515173.1:n.1845G>T
ENST00000703107.1:c.*1729G>T	ENSP00000515174.1:n.*1729G>T
ENST00000703108.1:c.*248G>T	ENSP00000515175.1:n.*248G>T
ENST00000703109.1:c.1833G>T	ENSP00000515176.1:p.Val611=
ENST00000703110.1:c.*1302G>T	ENSP00000515177.1:n.*1302G>T
ENST00000703111.1:n.1807G>T
ENST00000703112.1:n.2573G>T
ENST00000703113.1:c.*1213G>T	ENSP00000515178.1:n.*1213G>T
ENST00000703114.1:c.*449G>T	ENSP00000515179.1:n.*449G>T
ENST00000703115.1:c.913G>T	ENSP00000515180.1:n.913G>T
ENST00000323786.10:c.1800G>T MANE Select	ENSP00000315775.5:p.Val600=
ENST00000564415.6:c.*1580G>T	ENSP00000456653.2:n.*1580G>T
ENST00000674443.1:c.1725G>T	ENSP00000501405.1:p.Val575=
ENST00000323786.9:c.1800G>T	ENSP00000315775.5:p.Val600=
ENST00000393612.8:c.1737G>T	ENSP00000377236.5:p.Val579=
ENST00000482252.5:c.1947G>T	ENSP00000432802.1:n.1947G>T
ENST00000526700.5:n.976G>T
ENST00000530314.5:n.2479G>T
ENST00000564315.1:n.260G>T
ENST00000564415.5:c.*1580G>T	ENSP00000456653.1:n.*1580G>T
NM_001195139.1:c.1737G>T	NP_001182068.1:p.Val579=
NM_015386.2:c.1800G>T	NP_056201.2:p.Val600=
XM_011522981.1:c.1374G>T	XP_011521283.1:p.Val458=
XR_933266.1:n.1746G>T
XR_933267.1:n.1746G>T
XM_011522981.3:c.1374G>T	XP_011521283.1:p.Val458=
XM_024450224.1:c.819G>T	XP_024305992.1:p.Val273=
XR_001751889.1:n.1683G>T
XR_933266.2:n.1746G>T
NM_015386.3:c.1800G>T MANE Select	NP_056201.2:p.Val600=
NM_001195139.2:c.1725G>T	NP_001182068.2:p.Val575=
NM_001365426.1:c.1374G>T	NP_001352355.1:p.Val458=
NR_158212.1:n.1759G>T