Canonical Allele Identifier: CA396578225

Gene: COG4

Linked Data

• dbSNP Id: rs1597650850
• gnomAD v4: 16-70481424-T-C
• MyVariant Identifiers: chr16:g.70515327T>C (hg19) ; chr16:g.70481424T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481424T>C , CM000678.2:g.70481424T>C	GRCh38
NC_000016.9:g.70515327T>C , CM000678.1:g.70515327T>C	GRCh37
NC_000016.8:g.69072828T>C	NCBI36
NG_027529.1:g.47131A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2246A>G	ENSP00000461912.2:n.*2246A>G
ENST00000703106.1:c.2215A>G	ENSP00000515173.1:n.2215A>G
ENST00000703107.1:c.*2099A>G	ENSP00000515174.1:n.*2099A>G
ENST00000703108.1:c.*618A>G	ENSP00000515175.1:n.*618A>G
ENST00000703109.1:c.2203A>G	ENSP00000515176.1:p.Thr735Ala
ENST00000703110.1:c.*1672A>G	ENSP00000515177.1:n.*1672A>G
ENST00000703111.1:n.2453A>G
ENST00000703112.1:n.3114A>G
ENST00000703113.1:c.*1583A>G	ENSP00000515178.1:n.*1583A>G
ENST00000703114.1:c.*819A>G	ENSP00000515179.1:n.*819A>G
ENST00000703115.1:c.1283A>G	ENSP00000515180.1:n.1283A>G
ENST00000323786.10:c.2170A>G MANE Select	ENSP00000315775.5:p.Thr724Ala
ENST00000564415.6:c.*1950A>G	ENSP00000456653.2:n.*1950A>G
ENST00000674443.1:c.2095A>G	ENSP00000501405.1:p.Thr699Ala
ENST00000323786.9:c.2170A>G	ENSP00000315775.5:p.Thr724Ala
ENST00000393612.8:c.2107A>G	ENSP00000377236.5:p.Thr703Ala
ENST00000482252.5:c.2317A>G	ENSP00000432802.1:n.2317A>G
ENST00000526700.5:n.1346A>G
ENST00000530314.5:n.2849A>G
ENST00000564415.5:c.*1950A>G	ENSP00000456653.1:n.*1950A>G
ENST00000565715.1:c.232A>G	ENSP00000455693.1:p.Thr78Ala
NM_001195139.1:c.2107A>G	NP_001182068.1:p.Thr703Ala
NM_015386.2:c.2170A>G	NP_056201.2:p.Thr724Ala
XM_011522981.1:c.1744A>G	XP_011521283.1:p.Thr582Ala
XM_011522981.3:c.1744A>G	XP_011521283.1:p.Thr582Ala
XM_024450224.1:c.1189A>G	XP_024305992.1:p.Thr397Ala
XR_933266.2:n.2116A>G
NM_015386.3:c.2170A>G MANE Select	NP_056201.2:p.Thr724Ala
NM_001195139.2:c.2095A>G	NP_001182068.2:p.Thr699Ala
NM_001365426.1:c.1744A>G	NP_001352355.1:p.Thr582Ala
NR_158212.1:n.2129A>G