Canonical Allele Identifier: CA396580595

Gene: COG4

Linked Data

• gnomAD v4: 16-70483863-T-C
• MyVariant Identifiers: chr16:g.70517766T>C (hg19) ; chr16:g.70483863T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483863T>C , CM000678.2:g.70483863T>C	GRCh38
NC_000016.9:g.70517766T>C , CM000678.1:g.70517766T>C	GRCh37
NC_000016.8:g.69075267T>C	NCBI36
NG_027529.1:g.44692A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1893A>G	ENSP00000461912.2:n.*1893A>G
ENST00000703106.1:c.1862A>G	ENSP00000515173.1:n.1862A>G
ENST00000703107.1:c.*1746A>G	ENSP00000515174.1:n.*1746A>G
ENST00000703108.1:c.*265A>G	ENSP00000515175.1:n.*265A>G
ENST00000703109.1:c.1850A>G	ENSP00000515176.1:p.Asp617Gly
ENST00000703110.1:c.*1319A>G	ENSP00000515177.1:n.*1319A>G
ENST00000703111.1:n.1824A>G
ENST00000703112.1:n.2590A>G
ENST00000703113.1:c.*1230A>G	ENSP00000515178.1:n.*1230A>G
ENST00000703114.1:c.*466A>G	ENSP00000515179.1:n.*466A>G
ENST00000703115.1:c.930A>G	ENSP00000515180.1:n.930A>G
ENST00000323786.10:c.1817A>G MANE Select	ENSP00000315775.5:p.Asp606Gly
ENST00000564415.6:c.*1597A>G	ENSP00000456653.2:n.*1597A>G
ENST00000674443.1:c.1742A>G	ENSP00000501405.1:p.Asp581Gly
ENST00000323786.9:c.1817A>G	ENSP00000315775.5:p.Asp606Gly
ENST00000393612.8:c.1754A>G	ENSP00000377236.5:p.Asp585Gly
ENST00000482252.5:c.1964A>G	ENSP00000432802.1:n.1964A>G
ENST00000526700.5:n.993A>G
ENST00000530314.5:n.2496A>G
ENST00000564315.1:n.277A>G
ENST00000564415.5:c.*1597A>G	ENSP00000456653.1:n.*1597A>G
NM_001195139.1:c.1754A>G	NP_001182068.1:p.Asp585Gly
NM_015386.2:c.1817A>G	NP_056201.2:p.Asp606Gly
XM_011522981.1:c.1391A>G	XP_011521283.1:p.Asp464Gly
XR_933266.1:n.1763A>G
XR_933267.1:n.1763A>G
XM_011522981.3:c.1391A>G	XP_011521283.1:p.Asp464Gly
XM_024450224.1:c.836A>G	XP_024305992.1:p.Asp279Gly
XR_001751889.1:n.1700A>G
XR_933266.2:n.1763A>G
NM_015386.3:c.1817A>G MANE Select	NP_056201.2:p.Asp606Gly
NM_001195139.2:c.1742A>G	NP_001182068.2:p.Asp581Gly
NM_001365426.1:c.1391A>G	NP_001352355.1:p.Asp464Gly
NR_158212.1:n.1776A>G