Canonical Allele Identifier: CA396578623

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515386C>G (hg19) ; chr16:g.70481483C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481483C>G , CM000678.2:g.70481483C>G	GRCh38
NC_000016.9:g.70515386C>G , CM000678.1:g.70515386C>G	GRCh37
NC_000016.8:g.69072887C>G	NCBI36
NG_027529.1:g.47072G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2187G>C	ENSP00000461912.2:n.*2187G>C
ENST00000703106.1:c.2156G>C	ENSP00000515173.1:n.2156G>C
ENST00000703107.1:c.*2040G>C	ENSP00000515174.1:n.*2040G>C
ENST00000703108.1:c.*559G>C	ENSP00000515175.1:n.*559G>C
ENST00000703109.1:c.2144G>C	ENSP00000515176.1:p.Gly715Ala
ENST00000703110.1:c.*1613G>C	ENSP00000515177.1:n.*1613G>C
ENST00000703111.1:n.2394G>C
ENST00000703112.1:n.3055G>C
ENST00000703113.1:c.*1524G>C	ENSP00000515178.1:n.*1524G>C
ENST00000703114.1:c.*760G>C	ENSP00000515179.1:n.*760G>C
ENST00000703115.1:c.1224G>C	ENSP00000515180.1:n.1224G>C
ENST00000323786.10:c.2111G>C MANE Select	ENSP00000315775.5:p.Gly704Ala
ENST00000564415.6:c.*1891G>C	ENSP00000456653.2:n.*1891G>C
ENST00000674443.1:c.2036G>C	ENSP00000501405.1:p.Gly679Ala
ENST00000323786.9:c.2111G>C	ENSP00000315775.5:p.Gly704Ala
ENST00000393612.8:c.2048G>C	ENSP00000377236.5:p.Gly683Ala
ENST00000482252.5:c.2258G>C	ENSP00000432802.1:n.2258G>C
ENST00000526700.5:n.1287G>C
ENST00000530314.5:n.2790G>C
ENST00000564415.5:c.*1891G>C	ENSP00000456653.1:n.*1891G>C
ENST00000565715.1:c.173G>C	ENSP00000455693.1:p.Gly58Ala
NM_001195139.1:c.2048G>C	NP_001182068.1:p.Gly683Ala
NM_015386.2:c.2111G>C	NP_056201.2:p.Gly704Ala
XM_011522981.1:c.1685G>C	XP_011521283.1:p.Gly562Ala
XM_011522981.3:c.1685G>C	XP_011521283.1:p.Gly562Ala
XM_024450224.1:c.1130G>C	XP_024305992.1:p.Gly377Ala
XR_001751889.1:n.1994G>C
XR_933266.2:n.2057G>C
NM_015386.3:c.2111G>C MANE Select	NP_056201.2:p.Gly704Ala
NM_001195139.2:c.2036G>C	NP_001182068.2:p.Gly679Ala
NM_001365426.1:c.1685G>C	NP_001352355.1:p.Gly562Ala
NR_158212.1:n.2070G>C