Canonical Allele Identifier: CA396578256

Gene: COG4

Linked Data

• gnomAD v4: 16-70481430-C-G
• MyVariant Identifiers: chr16:g.70515333C>G (hg19) ; chr16:g.70481430C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481430C>G , CM000678.2:g.70481430C>G	GRCh38
NC_000016.9:g.70515333C>G , CM000678.1:g.70515333C>G	GRCh37
NC_000016.8:g.69072834C>G	NCBI36
NG_027529.1:g.47125G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2240G>C	ENSP00000461912.2:n.*2240G>C
ENST00000703106.1:c.2209G>C	ENSP00000515173.1:n.2209G>C
ENST00000703107.1:c.*2093G>C	ENSP00000515174.1:n.*2093G>C
ENST00000703108.1:c.*612G>C	ENSP00000515175.1:n.*612G>C
ENST00000703109.1:c.2197G>C	ENSP00000515176.1:p.Val733Leu
ENST00000703110.1:c.*1666G>C	ENSP00000515177.1:n.*1666G>C
ENST00000703111.1:n.2447G>C
ENST00000703112.1:n.3108G>C
ENST00000703113.1:c.*1577G>C	ENSP00000515178.1:n.*1577G>C
ENST00000703114.1:c.*813G>C	ENSP00000515179.1:n.*813G>C
ENST00000703115.1:c.1277G>C	ENSP00000515180.1:n.1277G>C
ENST00000323786.10:c.2164G>C MANE Select	ENSP00000315775.5:p.Val722Leu
ENST00000564415.6:c.*1944G>C	ENSP00000456653.2:n.*1944G>C
ENST00000674443.1:c.2089G>C	ENSP00000501405.1:p.Val697Leu
ENST00000323786.9:c.2164G>C	ENSP00000315775.5:p.Val722Leu
ENST00000393612.8:c.2101G>C	ENSP00000377236.5:p.Val701Leu
ENST00000482252.5:c.2311G>C	ENSP00000432802.1:n.2311G>C
ENST00000526700.5:n.1340G>C
ENST00000530314.5:n.2843G>C
ENST00000564415.5:c.*1944G>C	ENSP00000456653.1:n.*1944G>C
ENST00000565715.1:c.226G>C	ENSP00000455693.1:p.Val76Leu
NM_001195139.1:c.2101G>C	NP_001182068.1:p.Val701Leu
NM_015386.2:c.2164G>C	NP_056201.2:p.Val722Leu
XM_011522981.1:c.1738G>C	XP_011521283.1:p.Val580Leu
XM_011522981.3:c.1738G>C	XP_011521283.1:p.Val580Leu
XM_024450224.1:c.1183G>C	XP_024305992.1:p.Val395Leu
XR_933266.2:n.2110G>C
NM_015386.3:c.2164G>C MANE Select	NP_056201.2:p.Val722Leu
NM_001195139.2:c.2089G>C	NP_001182068.2:p.Val697Leu
NM_001365426.1:c.1738G>C	NP_001352355.1:p.Val580Leu
NR_158212.1:n.2123G>C