Canonical Allele Identifier: CA396580605

Gene: COG4

Linked Data

• gnomAD v4: 16-70483868-G-T
• MyVariant Identifiers: chr16:g.70517771G>T (hg19) ; chr16:g.70483868G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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