Canonical Allele Identifier: CA396580793

Gene: COG4

Linked Data

• dbSNP Id: rs2049071375
• MyVariant Identifiers: chr16:g.70517856A>G (hg19) ; chr16:g.70483953A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483953A>G , CM000678.2:g.70483953A>G	GRCh38
NC_000016.9:g.70517856A>G , CM000678.1:g.70517856A>G	GRCh37
NC_000016.8:g.69075357A>G	NCBI36
NG_027529.1:g.44602T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1803T>C	ENSP00000461912.2:n.*1803T>C
ENST00000703106.1:c.1772T>C	ENSP00000515173.1:n.1772T>C
ENST00000703107.1:c.*1656T>C	ENSP00000515174.1:n.*1656T>C
ENST00000703108.1:c.*175T>C	ENSP00000515175.1:n.*175T>C
ENST00000703109.1:c.1760T>C	ENSP00000515176.1:p.Leu587Pro
ENST00000703110.1:c.*1229T>C	ENSP00000515177.1:n.*1229T>C
ENST00000703111.1:n.1734T>C
ENST00000703112.1:n.2500T>C
ENST00000703113.1:c.*1140T>C	ENSP00000515178.1:n.*1140T>C
ENST00000703114.1:c.*376T>C	ENSP00000515179.1:n.*376T>C
ENST00000703115.1:c.840T>C	ENSP00000515180.1:n.840T>C
ENST00000323786.10:c.1727T>C MANE Select	ENSP00000315775.5:p.Leu576Pro
ENST00000564415.6:c.*1507T>C	ENSP00000456653.2:n.*1507T>C
ENST00000674443.1:c.1652T>C	ENSP00000501405.1:p.Leu551Pro
ENST00000323786.9:c.1727T>C	ENSP00000315775.5:p.Leu576Pro
ENST00000393612.8:c.1664T>C	ENSP00000377236.5:p.Leu555Pro
ENST00000482252.5:c.1874T>C	ENSP00000432802.1:n.1874T>C
ENST00000526700.5:n.903T>C
ENST00000530314.5:n.2406T>C
ENST00000564315.1:n.187T>C
ENST00000564415.5:c.*1507T>C	ENSP00000456653.1:n.*1507T>C
NM_001195139.1:c.1664T>C	NP_001182068.1:p.Leu555Pro
NM_015386.2:c.1727T>C	NP_056201.2:p.Leu576Pro
XM_011522981.1:c.1301T>C	XP_011521283.1:p.Leu434Pro
XR_933266.1:n.1673T>C
XR_933267.1:n.1673T>C
XM_011522981.3:c.1301T>C	XP_011521283.1:p.Leu434Pro
XM_024450224.1:c.746T>C	XP_024305992.1:p.Leu249Pro
XR_001751889.1:n.1610T>C
XR_933266.2:n.1673T>C
NM_015386.3:c.1727T>C MANE Select	NP_056201.2:p.Leu576Pro
NM_001195139.2:c.1652T>C	NP_001182068.2:p.Leu551Pro
NM_001365426.1:c.1301T>C	NP_001352355.1:p.Leu434Pro
NR_158212.1:n.1686T>C