Canonical Allele Identifier: CA396580604

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517771G>C (hg19) ; chr16:g.70483868G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483868G>C , CM000678.2:g.70483868G>C	GRCh38
NC_000016.9:g.70517771G>C , CM000678.1:g.70517771G>C	GRCh37
NC_000016.8:g.69075272G>C	NCBI36
NG_027529.1:g.44687C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1888C>G	ENSP00000461912.2:n.*1888C>G
ENST00000703106.1:c.1857C>G	ENSP00000515173.1:n.1857C>G
ENST00000703107.1:c.*1741C>G	ENSP00000515174.1:n.*1741C>G
ENST00000703108.1:c.*260C>G	ENSP00000515175.1:n.*260C>G
ENST00000703109.1:c.1845C>G	ENSP00000515176.1:p.Phe615Leu
ENST00000703110.1:c.*1314C>G	ENSP00000515177.1:n.*1314C>G
ENST00000703111.1:n.1819C>G
ENST00000703112.1:n.2585C>G
ENST00000703113.1:c.*1225C>G	ENSP00000515178.1:n.*1225C>G
ENST00000703114.1:c.*461C>G	ENSP00000515179.1:n.*461C>G
ENST00000703115.1:c.925C>G	ENSP00000515180.1:n.925C>G
ENST00000323786.10:c.1812C>G MANE Select	ENSP00000315775.5:p.Phe604Leu
ENST00000564415.6:c.*1592C>G	ENSP00000456653.2:n.*1592C>G
ENST00000674443.1:c.1737C>G	ENSP00000501405.1:p.Phe579Leu
ENST00000323786.9:c.1812C>G	ENSP00000315775.5:p.Phe604Leu
ENST00000393612.8:c.1749C>G	ENSP00000377236.5:p.Phe583Leu
ENST00000482252.5:c.1959C>G	ENSP00000432802.1:n.1959C>G
ENST00000526700.5:n.988C>G
ENST00000530314.5:n.2491C>G
ENST00000564315.1:n.272C>G
ENST00000564415.5:c.*1592C>G	ENSP00000456653.1:n.*1592C>G
NM_001195139.1:c.1749C>G	NP_001182068.1:p.Phe583Leu
NM_015386.2:c.1812C>G	NP_056201.2:p.Phe604Leu
XM_011522981.1:c.1386C>G	XP_011521283.1:p.Phe462Leu
XR_933266.1:n.1758C>G
XR_933267.1:n.1758C>G
XM_011522981.3:c.1386C>G	XP_011521283.1:p.Phe462Leu
XM_024450224.1:c.831C>G	XP_024305992.1:p.Phe277Leu
XR_001751889.1:n.1695C>G
XR_933266.2:n.1758C>G
NM_015386.3:c.1812C>G MANE Select	NP_056201.2:p.Phe604Leu
NM_001195139.2:c.1737C>G	NP_001182068.2:p.Phe579Leu
NM_001365426.1:c.1386C>G	NP_001352355.1:p.Phe462Leu
NR_158212.1:n.1771C>G