Canonical Allele Identifier: CA396578081

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515307C>G (hg19) ; chr16:g.70481404C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481404C>G , CM000678.2:g.70481404C>G	GRCh38
NC_000016.9:g.70515307C>G , CM000678.1:g.70515307C>G	GRCh37
NC_000016.8:g.69072808C>G	NCBI36
NG_027529.1:g.47151G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2266G>C	ENSP00000461912.2:n.*2266G>C
ENST00000703106.1:c.2235G>C	ENSP00000515173.1:n.2235G>C
ENST00000703107.1:c.*2119G>C	ENSP00000515174.1:n.*2119G>C
ENST00000703108.1:c.*638G>C	ENSP00000515175.1:n.*638G>C
ENST00000703109.1:c.2223G>C	ENSP00000515176.1:p.Lys741Asn
ENST00000703110.1:c.*1692G>C	ENSP00000515177.1:n.*1692G>C
ENST00000703111.1:n.2473G>C
ENST00000703112.1:n.3134G>C
ENST00000703113.1:c.*1603G>C	ENSP00000515178.1:n.*1603G>C
ENST00000703114.1:c.*839G>C	ENSP00000515179.1:n.*839G>C
ENST00000703115.1:c.1303G>C	ENSP00000515180.1:n.1303G>C
ENST00000323786.10:c.2190G>C MANE Select	ENSP00000315775.5:p.Lys730Asn
ENST00000564415.6:c.*1970G>C	ENSP00000456653.2:n.*1970G>C
ENST00000674443.1:c.2115G>C	ENSP00000501405.1:p.Lys705Asn
ENST00000323786.9:c.2190G>C	ENSP00000315775.5:p.Lys730Asn
ENST00000393612.8:c.2127G>C	ENSP00000377236.5:p.Lys709Asn
ENST00000482252.5:c.2337G>C	ENSP00000432802.1:n.2337G>C
ENST00000526700.5:n.1366G>C
ENST00000530314.5:n.2869G>C
ENST00000564415.5:c.*1970G>C	ENSP00000456653.1:n.*1970G>C
ENST00000565715.1:c.252G>C	ENSP00000455693.1:p.Lys84Asn
NM_001195139.1:c.2127G>C	NP_001182068.1:p.Lys709Asn
NM_015386.2:c.2190G>C	NP_056201.2:p.Lys730Asn
XM_011522981.1:c.1764G>C	XP_011521283.1:p.Lys588Asn
XM_011522981.3:c.1764G>C	XP_011521283.1:p.Lys588Asn
XM_024450224.1:c.1209G>C	XP_024305992.1:p.Lys403Asn
XR_933266.2:n.2136G>C
NM_015386.3:c.2190G>C MANE Select	NP_056201.2:p.Lys730Asn
NM_001195139.2:c.2115G>C	NP_001182068.2:p.Lys705Asn
NM_001365426.1:c.1764G>C	NP_001352355.1:p.Lys588Asn
NR_158212.1:n.2149G>C