Canonical Allele Identifier: CA396580670

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517802A>G (hg19) ; chr16:g.70483899A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483899A>G , CM000678.2:g.70483899A>G	GRCh38
NC_000016.9:g.70517802A>G , CM000678.1:g.70517802A>G	GRCh37
NC_000016.8:g.69075303A>G	NCBI36
NG_027529.1:g.44656T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1857T>C	ENSP00000461912.2:n.*1857T>C
ENST00000703106.1:c.1826T>C	ENSP00000515173.1:n.1826T>C
ENST00000703107.1:c.*1710T>C	ENSP00000515174.1:n.*1710T>C
ENST00000703108.1:c.*229T>C	ENSP00000515175.1:n.*229T>C
ENST00000703109.1:c.1814T>C	ENSP00000515176.1:p.Leu605Pro
ENST00000703110.1:c.*1283T>C	ENSP00000515177.1:n.*1283T>C
ENST00000703111.1:n.1788T>C
ENST00000703112.1:n.2554T>C
ENST00000703113.1:c.*1194T>C	ENSP00000515178.1:n.*1194T>C
ENST00000703114.1:c.*430T>C	ENSP00000515179.1:n.*430T>C
ENST00000703115.1:c.894T>C	ENSP00000515180.1:n.894T>C
ENST00000323786.10:c.1781T>C MANE Select	ENSP00000315775.5:p.Leu594Pro
ENST00000564415.6:c.*1561T>C	ENSP00000456653.2:n.*1561T>C
ENST00000674443.1:c.1706T>C	ENSP00000501405.1:p.Leu569Pro
ENST00000323786.9:c.1781T>C	ENSP00000315775.5:p.Leu594Pro
ENST00000393612.8:c.1718T>C	ENSP00000377236.5:p.Leu573Pro
ENST00000482252.5:c.1928T>C	ENSP00000432802.1:n.1928T>C
ENST00000526700.5:n.957T>C
ENST00000530314.5:n.2460T>C
ENST00000564315.1:n.241T>C
ENST00000564415.5:c.*1561T>C	ENSP00000456653.1:n.*1561T>C
NM_001195139.1:c.1718T>C	NP_001182068.1:p.Leu573Pro
NM_015386.2:c.1781T>C	NP_056201.2:p.Leu594Pro
XM_011522981.1:c.1355T>C	XP_011521283.1:p.Leu452Pro
XR_933266.1:n.1727T>C
XR_933267.1:n.1727T>C
XM_011522981.3:c.1355T>C	XP_011521283.1:p.Leu452Pro
XM_024450224.1:c.800T>C	XP_024305992.1:p.Leu267Pro
XR_001751889.1:n.1664T>C
XR_933266.2:n.1727T>C
NM_015386.3:c.1781T>C MANE Select	NP_056201.2:p.Leu594Pro
NM_001195139.2:c.1706T>C	NP_001182068.2:p.Leu569Pro
NM_001365426.1:c.1355T>C	NP_001352355.1:p.Leu452Pro
NR_158212.1:n.1740T>C