Canonical Allele Identifier: CA396578291

Gene: COG4

Linked Data

• dbSNP Id: rs2048990018
• gnomAD v3: 16-70481435-G-T
• gnomAD v4: 16-70481435-G-T
• MyVariant Identifiers: chr16:g.70515338G>T (hg19) ; chr16:g.70481435G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481435G>T , CM000678.2:g.70481435G>T	GRCh38
NC_000016.9:g.70515338G>T , CM000678.1:g.70515338G>T	GRCh37
NC_000016.8:g.69072839G>T	NCBI36
NG_027529.1:g.47120C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2235C>A	ENSP00000461912.2:n.*2235C>A
ENST00000703106.1:c.2204C>A	ENSP00000515173.1:n.2204C>A
ENST00000703107.1:c.*2088C>A	ENSP00000515174.1:n.*2088C>A
ENST00000703108.1:c.*607C>A	ENSP00000515175.1:n.*607C>A
ENST00000703109.1:c.2192C>A	ENSP00000515176.1:p.Thr731Asn
ENST00000703110.1:c.*1661C>A	ENSP00000515177.1:n.*1661C>A
ENST00000703111.1:n.2442C>A
ENST00000703112.1:n.3103C>A
ENST00000703113.1:c.*1572C>A	ENSP00000515178.1:n.*1572C>A
ENST00000703114.1:c.*808C>A	ENSP00000515179.1:n.*808C>A
ENST00000703115.1:c.1272C>A	ENSP00000515180.1:n.1272C>A
ENST00000323786.10:c.2159C>A MANE Select	ENSP00000315775.5:p.Thr720Asn
ENST00000564415.6:c.*1939C>A	ENSP00000456653.2:n.*1939C>A
ENST00000674443.1:c.2084C>A	ENSP00000501405.1:p.Thr695Asn
ENST00000323786.9:c.2159C>A	ENSP00000315775.5:p.Thr720Asn
ENST00000393612.8:c.2096C>A	ENSP00000377236.5:p.Thr699Asn
ENST00000482252.5:c.2306C>A	ENSP00000432802.1:n.2306C>A
ENST00000526700.5:n.1335C>A
ENST00000530314.5:n.2838C>A
ENST00000564415.5:c.*1939C>A	ENSP00000456653.1:n.*1939C>A
ENST00000565715.1:c.221C>A	ENSP00000455693.1:p.Thr74Asn
NM_001195139.1:c.2096C>A	NP_001182068.1:p.Thr699Asn
NM_015386.2:c.2159C>A	NP_056201.2:p.Thr720Asn
XM_011522981.1:c.1733C>A	XP_011521283.1:p.Thr578Asn
XM_011522981.3:c.1733C>A	XP_011521283.1:p.Thr578Asn
XM_024450224.1:c.1178C>A	XP_024305992.1:p.Thr393Asn
XR_933266.2:n.2105C>A
NM_015386.3:c.2159C>A MANE Select	NP_056201.2:p.Thr720Asn
NM_001195139.2:c.2084C>A	NP_001182068.2:p.Thr695Asn
NM_001365426.1:c.1733C>A	NP_001352355.1:p.Thr578Asn
NR_158212.1:n.2118C>A