Canonical Allele Identifier: CA396580647

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517791C>G (hg19) ; chr16:g.70483888C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483888C>G , CM000678.2:g.70483888C>G	GRCh38
NC_000016.9:g.70517791C>G , CM000678.1:g.70517791C>G	GRCh37
NC_000016.8:g.69075292C>G	NCBI36
NG_027529.1:g.44667G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1868G>C	ENSP00000461912.2:n.*1868G>C
ENST00000703106.1:c.1837G>C	ENSP00000515173.1:n.1837G>C
ENST00000703107.1:c.*1721G>C	ENSP00000515174.1:n.*1721G>C
ENST00000703108.1:c.*240G>C	ENSP00000515175.1:n.*240G>C
ENST00000703109.1:c.1825G>C	ENSP00000515176.1:p.Ala609Pro
ENST00000703110.1:c.*1294G>C	ENSP00000515177.1:n.*1294G>C
ENST00000703111.1:n.1799G>C
ENST00000703112.1:n.2565G>C
ENST00000703113.1:c.*1205G>C	ENSP00000515178.1:n.*1205G>C
ENST00000703114.1:c.*441G>C	ENSP00000515179.1:n.*441G>C
ENST00000703115.1:c.905G>C	ENSP00000515180.1:n.905G>C
ENST00000323786.10:c.1792G>C MANE Select	ENSP00000315775.5:p.Ala598Pro
ENST00000564415.6:c.*1572G>C	ENSP00000456653.2:n.*1572G>C
ENST00000674443.1:c.1717G>C	ENSP00000501405.1:p.Ala573Pro
ENST00000323786.9:c.1792G>C	ENSP00000315775.5:p.Ala598Pro
ENST00000393612.8:c.1729G>C	ENSP00000377236.5:p.Ala577Pro
ENST00000482252.5:c.1939G>C	ENSP00000432802.1:n.1939G>C
ENST00000526700.5:n.968G>C
ENST00000530314.5:n.2471G>C
ENST00000564315.1:n.252G>C
ENST00000564415.5:c.*1572G>C	ENSP00000456653.1:n.*1572G>C
NM_001195139.1:c.1729G>C	NP_001182068.1:p.Ala577Pro
NM_015386.2:c.1792G>C	NP_056201.2:p.Ala598Pro
XM_011522981.1:c.1366G>C	XP_011521283.1:p.Ala456Pro
XR_933266.1:n.1738G>C
XR_933267.1:n.1738G>C
XM_011522981.3:c.1366G>C	XP_011521283.1:p.Ala456Pro
XM_024450224.1:c.811G>C	XP_024305992.1:p.Ala271Pro
XR_001751889.1:n.1675G>C
XR_933266.2:n.1738G>C
NM_015386.3:c.1792G>C MANE Select	NP_056201.2:p.Ala598Pro
NM_001195139.2:c.1717G>C	NP_001182068.2:p.Ala573Pro
NM_001365426.1:c.1366G>C	NP_001352355.1:p.Ala456Pro
NR_158212.1:n.1751G>C