Canonical Allele Identifier: CA8144023

Gene: COG4

Linked Data

• dbSNP Id: rs11054
• ExAC: 16:70515355 C / G
• gnomAD v2: 16-70515355-C-G
• gnomAD v3: 16-70481452-C-G
• gnomAD v4: 16-70481452-C-G
• MyVariant Identifiers: chr16:g.70515355C>G (hg19) ; chr16:g.70481452C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481452C>G , CM000678.2:g.70481452C>G	GRCh38
NC_000016.9:g.70515355C>G , CM000678.1:g.70515355C>G	GRCh37
NC_000016.8:g.69072856C>G	NCBI36
NG_027529.1:g.47103G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2218G>C	ENSP00000461912.2:n.*2218G>C
ENST00000703106.1:c.2187G>C	ENSP00000515173.1:n.2187G>C
ENST00000703107.1:c.*2071G>C	ENSP00000515174.1:n.*2071G>C
ENST00000703108.1:c.*590G>C	ENSP00000515175.1:n.*590G>C
ENST00000703109.1:c.2175G>C	ENSP00000515176.1:p.Ser725=
ENST00000703110.1:c.*1644G>C	ENSP00000515177.1:n.*1644G>C
ENST00000703111.1:n.2425G>C
ENST00000703112.1:n.3086G>C
ENST00000703113.1:c.*1555G>C	ENSP00000515178.1:n.*1555G>C
ENST00000703114.1:c.*791G>C	ENSP00000515179.1:n.*791G>C
ENST00000703115.1:c.1255G>C	ENSP00000515180.1:n.1255G>C
ENST00000323786.10:c.2142G>C MANE Select	ENSP00000315775.5:p.Ser714=
ENST00000564415.6:c.*1922G>C	ENSP00000456653.2:n.*1922G>C
ENST00000674443.1:c.2067G>C	ENSP00000501405.1:p.Ser689=
ENST00000323786.9:c.2142G>C	ENSP00000315775.5:p.Ser714=
ENST00000393612.8:c.2079G>C	ENSP00000377236.5:p.Ser693=
ENST00000482252.5:c.2289G>C	ENSP00000432802.1:n.2289G>C
ENST00000526700.5:n.1318G>C
ENST00000530314.5:n.2821G>C
ENST00000564415.5:c.*1922G>C	ENSP00000456653.1:n.*1922G>C
ENST00000565715.1:c.204G>C	ENSP00000455693.1:p.Ser68=
NM_001195139.1:c.2079G>C	NP_001182068.1:p.Ser693=
NM_015386.2:c.2142G>C	NP_056201.2:p.Ser714=
XM_011522981.1:c.1716G>C	XP_011521283.1:p.Ser572=
XM_011522981.3:c.1716G>C	XP_011521283.1:p.Ser572=
XM_024450224.1:c.1161G>C	XP_024305992.1:p.Ser387=
XR_933266.2:n.2088G>C
NM_015386.3:c.2142G>C MANE Select	NP_056201.2:p.Ser714=
NM_001195139.2:c.2067G>C	NP_001182068.2:p.Ser689=
NM_001365426.1:c.1716G>C	NP_001352355.1:p.Ser572=
NR_158212.1:n.2101G>C