Canonical Allele Identifier: CA396576854

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70512312A>G , CM000678.2:g.70512312A>G	GRCh38
NC_000016.9:g.70546215A>G , CM000678.1:g.70546215A>G	GRCh37
NC_000016.8:g.69103716A>G	NCBI36
NG_027529.1:g.16243T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015386.3:c.665T>C MANE Select	NP_056201.2:p.Phe222Ser
ENST00000323786.10:c.665T>C MANE Select	ENSP00000315775.5:p.Phe222Ser
NM_001195139.1:c.665T>C	NP_001182068.1:p.Phe222Ser
NM_001195139.2:c.653T>C	NP_001182068.2:p.Phe218Ser
NM_001365426.1:c.239T>C	NP_001352355.1:p.Phe80Ser
NM_015386.2:c.665T>C	NP_056201.2:p.Phe222Ser
NR_158212.1:n.676T>C
ENST00000323786.9:c.665T>C	ENSP00000315775.5:p.Phe222Ser
ENST00000393612.8:c.665T>C	ENSP00000377236.5:p.Phe222Ser
ENST00000482252.5:c.653T>C	ENSP00000432802.1:p.Phe218Ser
ENST00000530314.5:n.578T>C
ENST00000534772.1:c.434T>C	ENSP00000461912.1:p.Phe145Ser
ENST00000534772.2:c.*741T>C	ENSP00000461912.2:n.*741T>C
ENST00000562200.5:n.662T>C
ENST00000564415.5:c.*445T>C	ENSP00000456653.1:n.*445T>C
ENST00000564415.6:c.*445T>C	ENSP00000456653.2:n.*445T>C
ENST00000564653.5:c.538T>C	ENSP00000454573.1:p.Ser180Pro
ENST00000564653.6:c.526T>C	ENSP00000454573.2:p.Ser176Pro
ENST00000674443.1:c.653T>C	ENSP00000501405.1:p.Phe218Ser
ENST00000703106.1:c.614T>C	ENSP00000515173.1:p.Phe205Ser
ENST00000703107.1:c.*594T>C	ENSP00000515174.1:n.*594T>C
ENST00000703108.1:c.653T>C	ENSP00000515175.1:p.Phe218Ser
ENST00000703109.1:c.572T>C	ENSP00000515176.1:p.Phe191Ser
ENST00000703110.1:c.*230T>C	ENSP00000515177.1:n.*230T>C
ENST00000703111.1:n.672T>C
ENST00000703112.1:n.672T>C
ENST00000703113.1:c.*78T>C	ENSP00000515178.1:n.*78T>C
ENST00000703114.1:c.653T>C	ENSP00000515179.1:p.Phe218Ser
ENST00000703115.1:c.521T>C	ENSP00000515180.1:p.Phe174Ser
XM_011522981.1:c.239T>C	XP_011521283.1:p.Phe80Ser
XM_011522981.3:c.239T>C	XP_011521283.1:p.Phe80Ser
XM_024450224.1:c.-1020T>C	XP_024305992.1:n.-1020T>C
XR_001751889.1:n.663T>C
XR_933266.1:n.663T>C
XR_933266.2:n.663T>C
XR_933267.1:n.663T>C