Canonical Allele Identifier: CA496228667

Gene: COG4

Linked Data

• gnomAD v4: 16-70483877-G-C
• MyVariant Identifiers: chr16:g.70517780G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483877G>C , CM000678.2:g.70483877G>C	GRCh38
NC_000016.9:g.70517780G>C , CM000678.1:g.70517780G>C	GRCh37
NC_000016.8:g.69075281G>C	NCBI36
NG_027529.1:g.44678C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000534772.2:c.*1879C>G	ENSP00000461912.2:n.*1879C>G
ENST00000703106.1:c.1848C>G	ENSP00000515173.1:n.1848C>G
ENST00000703107.1:c.*1732C>G	ENSP00000515174.1:n.*1732C>G
ENST00000703108.1:c.*251C>G	ENSP00000515175.1:n.*251C>G
ENST00000703109.1:c.1836C>G	ENSP00000515176.1:p.Ser612=
ENST00000703110.1:c.*1305C>G	ENSP00000515177.1:n.*1305C>G
ENST00000703111.1:n.1810C>G
ENST00000703112.1:n.2576C>G
ENST00000703113.1:c.*1216C>G	ENSP00000515178.1:n.*1216C>G
ENST00000703114.1:c.*452C>G	ENSP00000515179.1:n.*452C>G
ENST00000703115.1:c.916C>G	ENSP00000515180.1:n.916C>G
ENST00000323786.10:c.1803C>G MANE Select	ENSP00000315775.5:p.Ser601=
ENST00000564415.6:c.*1583C>G	ENSP00000456653.2:n.*1583C>G
ENST00000674443.1:c.1728C>G	ENSP00000501405.1:p.Ser576=
ENST00000323786.9:c.1803C>G	ENSP00000315775.5:p.Ser601=
ENST00000393612.8:c.1740C>G	ENSP00000377236.5:p.Ser580=
ENST00000482252.5:c.1950C>G	ENSP00000432802.1:n.1950C>G
ENST00000526700.5:n.979C>G
ENST00000530314.5:n.2482C>G
ENST00000564315.1:n.263C>G
ENST00000564415.5:c.*1583C>G	ENSP00000456653.1:n.*1583C>G
NM_001195139.1:c.1740C>G	NP_001182068.1:p.Ser580=
NM_015386.2:c.1803C>G	NP_056201.2:p.Ser601=
XM_011522981.1:c.1377C>G	XP_011521283.1:p.Ser459=
XR_933266.1:n.1749C>G
XR_933267.1:n.1749C>G
XM_011522981.3:c.1377C>G	XP_011521283.1:p.Ser459=
XM_024450224.1:c.822C>G	XP_024305992.1:p.Ser274=
XR_001751889.1:n.1686C>G
XR_933266.2:n.1749C>G
NM_015386.3:c.1803C>G MANE Select	NP_056201.2:p.Ser601=
NM_001195139.2:c.1728C>G	NP_001182068.2:p.Ser576=
NM_001365426.1:c.1377C>G	NP_001352355.1:p.Ser459=
NR_158212.1:n.1762C>G