Canonical Allele Identifier: CA396580581

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517760A>G (hg19) ; chr16:g.70483857A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483857A>G , CM000678.2:g.70483857A>G	GRCh38
NC_000016.9:g.70517760A>G , CM000678.1:g.70517760A>G	GRCh37
NC_000016.8:g.69075261A>G	NCBI36
NG_027529.1:g.44698T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1899T>C	ENSP00000461912.2:n.*1899T>C
ENST00000703106.1:c.1868T>C	ENSP00000515173.1:n.1868T>C
ENST00000703107.1:c.*1752T>C	ENSP00000515174.1:n.*1752T>C
ENST00000703108.1:c.*271T>C	ENSP00000515175.1:n.*271T>C
ENST00000703109.1:c.1856T>C	ENSP00000515176.1:p.Leu619Ser
ENST00000703110.1:c.*1325T>C	ENSP00000515177.1:n.*1325T>C
ENST00000703111.1:n.1830T>C
ENST00000703112.1:n.2596T>C
ENST00000703113.1:c.*1236T>C	ENSP00000515178.1:n.*1236T>C
ENST00000703114.1:c.*472T>C	ENSP00000515179.1:n.*472T>C
ENST00000703115.1:c.936T>C	ENSP00000515180.1:n.936T>C
ENST00000323786.10:c.1823T>C MANE Select	ENSP00000315775.5:p.Leu608Ser
ENST00000564415.6:c.*1603T>C	ENSP00000456653.2:n.*1603T>C
ENST00000674443.1:c.1748T>C	ENSP00000501405.1:p.Leu583Ser
ENST00000323786.9:c.1823T>C	ENSP00000315775.5:p.Leu608Ser
ENST00000393612.8:c.1760T>C	ENSP00000377236.5:p.Leu587Ser
ENST00000482252.5:c.1970T>C	ENSP00000432802.1:n.1970T>C
ENST00000526700.5:n.999T>C
ENST00000530314.5:n.2502T>C
ENST00000564315.1:n.283T>C
ENST00000564415.5:c.*1603T>C	ENSP00000456653.1:n.*1603T>C
NM_001195139.1:c.1760T>C	NP_001182068.1:p.Leu587Ser
NM_015386.2:c.1823T>C	NP_056201.2:p.Leu608Ser
XM_011522981.1:c.1397T>C	XP_011521283.1:p.Leu466Ser
XR_933266.1:n.1769T>C
XR_933267.1:n.1769T>C
XM_011522981.3:c.1397T>C	XP_011521283.1:p.Leu466Ser
XM_024450224.1:c.842T>C	XP_024305992.1:p.Leu281Ser
XR_001751889.1:n.1706T>C
XR_933266.2:n.1769T>C
NM_015386.3:c.1823T>C MANE Select	NP_056201.2:p.Leu608Ser
NM_001195139.2:c.1748T>C	NP_001182068.2:p.Leu583Ser
NM_001365426.1:c.1397T>C	NP_001352355.1:p.Leu466Ser
NR_158212.1:n.1782T>C