Canonical Allele Identifier: CA8144208

Gene: COG4

Linked Data

• dbSNP Id: rs768308043
• ExAC: 16:70517854 A / G
• gnomAD v2: 16-70517854-A-G
• gnomAD v3: 16-70483951-A-G
• gnomAD v4: 16-70483951-A-G
• MyVariant Identifiers: chr16:g.70517854A>G (hg19) ; chr16:g.70483951A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483951A>G , CM000678.2:g.70483951A>G	GRCh38
NC_000016.9:g.70517854A>G , CM000678.1:g.70517854A>G	GRCh37
NC_000016.8:g.69075355A>G	NCBI36
NG_027529.1:g.44604T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1805T>C	ENSP00000461912.2:n.*1805T>C
ENST00000703106.1:c.1774T>C	ENSP00000515173.1:n.1774T>C
ENST00000703107.1:c.*1658T>C	ENSP00000515174.1:n.*1658T>C
ENST00000703108.1:c.*177T>C	ENSP00000515175.1:n.*177T>C
ENST00000703109.1:c.1762T>C	ENSP00000515176.1:p.Phe588Leu
ENST00000703110.1:c.*1231T>C	ENSP00000515177.1:n.*1231T>C
ENST00000703111.1:n.1736T>C
ENST00000703112.1:n.2502T>C
ENST00000703113.1:c.*1142T>C	ENSP00000515178.1:n.*1142T>C
ENST00000703114.1:c.*378T>C	ENSP00000515179.1:n.*378T>C
ENST00000703115.1:c.842T>C	ENSP00000515180.1:n.842T>C
ENST00000323786.10:c.1729T>C MANE Select	ENSP00000315775.5:p.Phe577Leu
ENST00000564415.6:c.*1509T>C	ENSP00000456653.2:n.*1509T>C
ENST00000674443.1:c.1654T>C	ENSP00000501405.1:p.Phe552Leu
ENST00000323786.9:c.1729T>C	ENSP00000315775.5:p.Phe577Leu
ENST00000393612.8:c.1666T>C	ENSP00000377236.5:p.Phe556Leu
ENST00000482252.5:c.1876T>C	ENSP00000432802.1:n.1876T>C
ENST00000526700.5:n.905T>C
ENST00000530314.5:n.2408T>C
ENST00000564315.1:n.189T>C
ENST00000564415.5:c.*1509T>C	ENSP00000456653.1:n.*1509T>C
NM_001195139.1:c.1666T>C	NP_001182068.1:p.Phe556Leu
NM_015386.2:c.1729T>C	NP_056201.2:p.Phe577Leu
XM_011522981.1:c.1303T>C	XP_011521283.1:p.Phe435Leu
XR_933266.1:n.1675T>C
XR_933267.1:n.1675T>C
XM_011522981.3:c.1303T>C	XP_011521283.1:p.Phe435Leu
XM_024450224.1:c.748T>C	XP_024305992.1:p.Phe250Leu
XR_001751889.1:n.1612T>C
XR_933266.2:n.1675T>C
NM_015386.3:c.1729T>C MANE Select	NP_056201.2:p.Phe577Leu
NM_001195139.2:c.1654T>C	NP_001182068.2:p.Phe552Leu
NM_001365426.1:c.1303T>C	NP_001352355.1:p.Phe435Leu
NR_158212.1:n.1688T>C