Canonical Allele Identifier: CA396578234

Gene: COG4

Linked Data

• gnomAD v4: 16-70481427-T-A
• MyVariant Identifiers: chr16:g.70515330T>A (hg19) ; chr16:g.70481427T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481427T>A , CM000678.2:g.70481427T>A	GRCh38
NC_000016.9:g.70515330T>A , CM000678.1:g.70515330T>A	GRCh37
NC_000016.8:g.69072831T>A	NCBI36
NG_027529.1:g.47128A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2243A>T	ENSP00000461912.2:n.*2243A>T
ENST00000703106.1:c.2212A>T	ENSP00000515173.1:n.2212A>T
ENST00000703107.1:c.*2096A>T	ENSP00000515174.1:n.*2096A>T
ENST00000703108.1:c.*615A>T	ENSP00000515175.1:n.*615A>T
ENST00000703109.1:c.2200A>T	ENSP00000515176.1:p.Thr734Ser
ENST00000703110.1:c.*1669A>T	ENSP00000515177.1:n.*1669A>T
ENST00000703111.1:n.2450A>T
ENST00000703112.1:n.3111A>T
ENST00000703113.1:c.*1580A>T	ENSP00000515178.1:n.*1580A>T
ENST00000703114.1:c.*816A>T	ENSP00000515179.1:n.*816A>T
ENST00000703115.1:c.1280A>T	ENSP00000515180.1:n.1280A>T
ENST00000323786.10:c.2167A>T MANE Select	ENSP00000315775.5:p.Thr723Ser
ENST00000564415.6:c.*1947A>T	ENSP00000456653.2:n.*1947A>T
ENST00000674443.1:c.2092A>T	ENSP00000501405.1:p.Thr698Ser
ENST00000323786.9:c.2167A>T	ENSP00000315775.5:p.Thr723Ser
ENST00000393612.8:c.2104A>T	ENSP00000377236.5:p.Thr702Ser
ENST00000482252.5:c.2314A>T	ENSP00000432802.1:n.2314A>T
ENST00000526700.5:n.1343A>T
ENST00000530314.5:n.2846A>T
ENST00000564415.5:c.*1947A>T	ENSP00000456653.1:n.*1947A>T
ENST00000565715.1:c.229A>T	ENSP00000455693.1:p.Thr77Ser
NM_001195139.1:c.2104A>T	NP_001182068.1:p.Thr702Ser
NM_015386.2:c.2167A>T	NP_056201.2:p.Thr723Ser
XM_011522981.1:c.1741A>T	XP_011521283.1:p.Thr581Ser
XM_011522981.3:c.1741A>T	XP_011521283.1:p.Thr581Ser
XM_024450224.1:c.1186A>T	XP_024305992.1:p.Thr396Ser
XR_933266.2:n.2113A>T
NM_015386.3:c.2167A>T MANE Select	NP_056201.2:p.Thr723Ser
NM_001195139.2:c.2092A>T	NP_001182068.2:p.Thr698Ser
NM_001365426.1:c.1741A>T	NP_001352355.1:p.Thr581Ser
NR_158212.1:n.2126A>T