Canonical Allele Identifier: CA8144026

Gene: COG4

Linked Data

• dbSNP Id: rs149140911
• ExAC: 16:70515382 A / G
• gnomAD v2: 16-70515382-A-G
• gnomAD v3: 16-70481479-A-G
• gnomAD v4: 16-70481479-A-G
• MyVariant Identifiers: chr16:g.70515382A>G (hg19) ; chr16:g.70481479A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481479A>G , CM000678.2:g.70481479A>G	GRCh38
NC_000016.9:g.70515382A>G , CM000678.1:g.70515382A>G	GRCh37
NC_000016.8:g.69072883A>G	NCBI36
NG_027529.1:g.47076T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2191T>C	ENSP00000461912.2:n.*2191T>C
ENST00000703106.1:c.2160T>C	ENSP00000515173.1:n.2160T>C
ENST00000703107.1:c.*2044T>C	ENSP00000515174.1:n.*2044T>C
ENST00000703108.1:c.*563T>C	ENSP00000515175.1:n.*563T>C
ENST00000703109.1:c.2148T>C	ENSP00000515176.1:p.Gly716=
ENST00000703110.1:c.*1617T>C	ENSP00000515177.1:n.*1617T>C
ENST00000703111.1:n.2398T>C
ENST00000703112.1:n.3059T>C
ENST00000703113.1:c.*1528T>C	ENSP00000515178.1:n.*1528T>C
ENST00000703114.1:c.*764T>C	ENSP00000515179.1:n.*764T>C
ENST00000703115.1:c.1228T>C	ENSP00000515180.1:n.1228T>C
ENST00000323786.10:c.2115T>C MANE Select	ENSP00000315775.5:p.Gly705=
ENST00000564415.6:c.*1895T>C	ENSP00000456653.2:n.*1895T>C
ENST00000674443.1:c.2040T>C	ENSP00000501405.1:p.Gly680=
ENST00000323786.9:c.2115T>C	ENSP00000315775.5:p.Gly705=
ENST00000393612.8:c.2052T>C	ENSP00000377236.5:p.Gly684=
ENST00000482252.5:c.2262T>C	ENSP00000432802.1:n.2262T>C
ENST00000526700.5:n.1291T>C
ENST00000530314.5:n.2794T>C
ENST00000564415.5:c.*1895T>C	ENSP00000456653.1:n.*1895T>C
ENST00000565715.1:c.177T>C	ENSP00000455693.1:p.Gly59=
NM_001195139.1:c.2052T>C	NP_001182068.1:p.Gly684=
NM_015386.2:c.2115T>C	NP_056201.2:p.Gly705=
XM_011522981.1:c.1689T>C	XP_011521283.1:p.Gly563=
XM_011522981.3:c.1689T>C	XP_011521283.1:p.Gly563=
XM_024450224.1:c.1134T>C	XP_024305992.1:p.Gly378=
XR_001751889.1:n.1998T>C
XR_933266.2:n.2061T>C
NM_015386.3:c.2115T>C MANE Select	NP_056201.2:p.Gly705=
NM_001195139.2:c.2040T>C	NP_001182068.2:p.Gly680=
NM_001365426.1:c.1689T>C	NP_001352355.1:p.Gly563=
NR_158212.1:n.2074T>C