Canonical Allele Identifier: CA396578541

Gene: COG4

Linked Data

• gnomAD v4: 16-70481469-C-T
• MyVariant Identifiers: chr16:g.70515372C>T (hg19) ; chr16:g.70481469C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481469C>T , CM000678.2:g.70481469C>T	GRCh38
NC_000016.9:g.70515372C>T , CM000678.1:g.70515372C>T	GRCh37
NC_000016.8:g.69072873C>T	NCBI36
NG_027529.1:g.47086G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2201G>A	ENSP00000461912.2:n.*2201G>A
ENST00000703106.1:c.2170G>A	ENSP00000515173.1:n.2170G>A
ENST00000703107.1:c.*2054G>A	ENSP00000515174.1:n.*2054G>A
ENST00000703108.1:c.*573G>A	ENSP00000515175.1:n.*573G>A
ENST00000703109.1:c.2158G>A	ENSP00000515176.1:p.Asp720Asn
ENST00000703110.1:c.*1627G>A	ENSP00000515177.1:n.*1627G>A
ENST00000703111.1:n.2408G>A
ENST00000703112.1:n.3069G>A
ENST00000703113.1:c.*1538G>A	ENSP00000515178.1:n.*1538G>A
ENST00000703114.1:c.*774G>A	ENSP00000515179.1:n.*774G>A
ENST00000703115.1:c.1238G>A	ENSP00000515180.1:n.1238G>A
ENST00000323786.10:c.2125G>A MANE Select	ENSP00000315775.5:p.Asp709Asn
ENST00000564415.6:c.*1905G>A	ENSP00000456653.2:n.*1905G>A
ENST00000674443.1:c.2050G>A	ENSP00000501405.1:p.Asp684Asn
ENST00000323786.9:c.2125G>A	ENSP00000315775.5:p.Asp709Asn
ENST00000393612.8:c.2062G>A	ENSP00000377236.5:p.Asp688Asn
ENST00000482252.5:c.2272G>A	ENSP00000432802.1:n.2272G>A
ENST00000526700.5:n.1301G>A
ENST00000530314.5:n.2804G>A
ENST00000564415.5:c.*1905G>A	ENSP00000456653.1:n.*1905G>A
ENST00000565715.1:c.187G>A	ENSP00000455693.1:p.Asp63Asn
NM_001195139.1:c.2062G>A	NP_001182068.1:p.Asp688Asn
NM_015386.2:c.2125G>A	NP_056201.2:p.Asp709Asn
XM_011522981.1:c.1699G>A	XP_011521283.1:p.Asp567Asn
XM_011522981.3:c.1699G>A	XP_011521283.1:p.Asp567Asn
XM_024450224.1:c.1144G>A	XP_024305992.1:p.Asp382Asn
XR_001751889.1:n.2008G>A
XR_933266.2:n.2071G>A
NM_015386.3:c.2125G>A MANE Select	NP_056201.2:p.Asp709Asn
NM_001195139.2:c.2050G>A	NP_001182068.2:p.Asp684Asn
NM_001365426.1:c.1699G>A	NP_001352355.1:p.Asp567Asn
NR_158212.1:n.2084G>A