Canonical Allele Identifier: CA396580804

Gene: COG4

Linked Data

• gnomAD v4: 16-70483957-T-C
• MyVariant Identifiers: chr16:g.70517860T>C (hg19) ; chr16:g.70483957T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483957T>C , CM000678.2:g.70483957T>C	GRCh38
NC_000016.9:g.70517860T>C , CM000678.1:g.70517860T>C	GRCh37
NC_000016.8:g.69075361T>C	NCBI36
NG_027529.1:g.44598A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1799A>G	ENSP00000461912.2:n.*1799A>G
ENST00000703106.1:c.1768A>G	ENSP00000515173.1:n.1768A>G
ENST00000703107.1:c.*1652A>G	ENSP00000515174.1:n.*1652A>G
ENST00000703108.1:c.*171A>G	ENSP00000515175.1:n.*171A>G
ENST00000703109.1:c.1756A>G	ENSP00000515176.1:p.Lys586Glu
ENST00000703110.1:c.*1225A>G	ENSP00000515177.1:n.*1225A>G
ENST00000703111.1:n.1730A>G
ENST00000703112.1:n.2496A>G
ENST00000703113.1:c.*1136A>G	ENSP00000515178.1:n.*1136A>G
ENST00000703114.1:c.*372A>G	ENSP00000515179.1:n.*372A>G
ENST00000703115.1:c.836A>G	ENSP00000515180.1:n.836A>G
ENST00000323786.10:c.1723A>G MANE Select	ENSP00000315775.5:p.Lys575Glu
ENST00000564415.6:c.*1503A>G	ENSP00000456653.2:n.*1503A>G
ENST00000674443.1:c.1648A>G	ENSP00000501405.1:p.Lys550Glu
ENST00000323786.9:c.1723A>G	ENSP00000315775.5:p.Lys575Glu
ENST00000393612.8:c.1660A>G	ENSP00000377236.5:p.Lys554Glu
ENST00000482252.5:c.1870A>G	ENSP00000432802.1:n.1870A>G
ENST00000526700.5:n.899A>G
ENST00000530314.5:n.2402A>G
ENST00000564315.1:n.183A>G
ENST00000564415.5:c.*1503A>G	ENSP00000456653.1:n.*1503A>G
NM_001195139.1:c.1660A>G	NP_001182068.1:p.Lys554Glu
NM_015386.2:c.1723A>G	NP_056201.2:p.Lys575Glu
XM_011522981.1:c.1297A>G	XP_011521283.1:p.Lys433Glu
XR_933266.1:n.1669A>G
XR_933267.1:n.1669A>G
XM_011522981.3:c.1297A>G	XP_011521283.1:p.Lys433Glu
XM_024450224.1:c.742A>G	XP_024305992.1:p.Lys248Glu
XR_001751889.1:n.1606A>G
XR_933266.2:n.1669A>G
NM_015386.3:c.1723A>G MANE Select	NP_056201.2:p.Lys575Glu
NM_001195139.2:c.1648A>G	NP_001182068.2:p.Lys550Glu
NM_001365426.1:c.1297A>G	NP_001352355.1:p.Lys433Glu
NR_158212.1:n.1682A>G