Canonical Allele Identifier: CA396578594

Gene: COG4

Linked Data

• gnomAD v4: 16-70481477-A-G
• MyVariant Identifiers: chr16:g.70515380A>G (hg19) ; chr16:g.70481477A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481477A>G , CM000678.2:g.70481477A>G	GRCh38
NC_000016.9:g.70515380A>G , CM000678.1:g.70515380A>G	GRCh37
NC_000016.8:g.69072881A>G	NCBI36
NG_027529.1:g.47078T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2193T>C	ENSP00000461912.2:n.*2193T>C
ENST00000703106.1:c.2162T>C	ENSP00000515173.1:n.2162T>C
ENST00000703107.1:c.*2046T>C	ENSP00000515174.1:n.*2046T>C
ENST00000703108.1:c.*565T>C	ENSP00000515175.1:n.*565T>C
ENST00000703109.1:c.2150T>C	ENSP00000515176.1:p.Leu717Pro
ENST00000703110.1:c.*1619T>C	ENSP00000515177.1:n.*1619T>C
ENST00000703111.1:n.2400T>C
ENST00000703112.1:n.3061T>C
ENST00000703113.1:c.*1530T>C	ENSP00000515178.1:n.*1530T>C
ENST00000703114.1:c.*766T>C	ENSP00000515179.1:n.*766T>C
ENST00000703115.1:c.1230T>C	ENSP00000515180.1:n.1230T>C
ENST00000323786.10:c.2117T>C MANE Select	ENSP00000315775.5:p.Leu706Pro
ENST00000564415.6:c.*1897T>C	ENSP00000456653.2:n.*1897T>C
ENST00000674443.1:c.2042T>C	ENSP00000501405.1:p.Leu681Pro
ENST00000323786.9:c.2117T>C	ENSP00000315775.5:p.Leu706Pro
ENST00000393612.8:c.2054T>C	ENSP00000377236.5:p.Leu685Pro
ENST00000482252.5:c.2264T>C	ENSP00000432802.1:n.2264T>C
ENST00000526700.5:n.1293T>C
ENST00000530314.5:n.2796T>C
ENST00000564415.5:c.*1897T>C	ENSP00000456653.1:n.*1897T>C
ENST00000565715.1:c.179T>C	ENSP00000455693.1:p.Leu60Pro
NM_001195139.1:c.2054T>C	NP_001182068.1:p.Leu685Pro
NM_015386.2:c.2117T>C	NP_056201.2:p.Leu706Pro
XM_011522981.1:c.1691T>C	XP_011521283.1:p.Leu564Pro
XM_011522981.3:c.1691T>C	XP_011521283.1:p.Leu564Pro
XM_024450224.1:c.1136T>C	XP_024305992.1:p.Leu379Pro
XR_001751889.1:n.2000T>C
XR_933266.2:n.2063T>C
NM_015386.3:c.2117T>C MANE Select	NP_056201.2:p.Leu706Pro
NM_001195139.2:c.2042T>C	NP_001182068.2:p.Leu681Pro
NM_001365426.1:c.1691T>C	NP_001352355.1:p.Leu564Pro
NR_158212.1:n.2076T>C