Canonical Allele Identifier: CA396578399

Gene: COG4

Linked Data

• dbSNP Id: rs1354613726
• gnomAD v2: 16-70515354-G-A
• gnomAD v3: 16-70481451-G-A
• gnomAD v4: 16-70481451-G-A
• MyVariant Identifiers: chr16:g.70515354G>A (hg19) ; chr16:g.70481451G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481451G>A , CM000678.2:g.70481451G>A	GRCh38
NC_000016.9:g.70515354G>A , CM000678.1:g.70515354G>A	GRCh37
NC_000016.8:g.69072855G>A	NCBI36
NG_027529.1:g.47104C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2219C>T	ENSP00000461912.2:n.*2219C>T
ENST00000703106.1:c.2188C>T	ENSP00000515173.1:n.2188C>T
ENST00000703107.1:c.*2072C>T	ENSP00000515174.1:n.*2072C>T
ENST00000703108.1:c.*591C>T	ENSP00000515175.1:n.*591C>T
ENST00000703109.1:c.2176C>T	ENSP00000515176.1:p.Leu726Phe
ENST00000703110.1:c.*1645C>T	ENSP00000515177.1:n.*1645C>T
ENST00000703111.1:n.2426C>T
ENST00000703112.1:n.3087C>T
ENST00000703113.1:c.*1556C>T	ENSP00000515178.1:n.*1556C>T
ENST00000703114.1:c.*792C>T	ENSP00000515179.1:n.*792C>T
ENST00000703115.1:c.1256C>T	ENSP00000515180.1:n.1256C>T
ENST00000323786.10:c.2143C>T MANE Select	ENSP00000315775.5:p.Leu715Phe
ENST00000564415.6:c.*1923C>T	ENSP00000456653.2:n.*1923C>T
ENST00000674443.1:c.2068C>T	ENSP00000501405.1:p.Leu690Phe
ENST00000323786.9:c.2143C>T	ENSP00000315775.5:p.Leu715Phe
ENST00000393612.8:c.2080C>T	ENSP00000377236.5:p.Leu694Phe
ENST00000482252.5:c.2290C>T	ENSP00000432802.1:n.2290C>T
ENST00000526700.5:n.1319C>T
ENST00000530314.5:n.2822C>T
ENST00000564415.5:c.*1923C>T	ENSP00000456653.1:n.*1923C>T
ENST00000565715.1:c.205C>T	ENSP00000455693.1:p.Leu69Phe
NM_001195139.1:c.2080C>T	NP_001182068.1:p.Leu694Phe
NM_015386.2:c.2143C>T	NP_056201.2:p.Leu715Phe
XM_011522981.1:c.1717C>T	XP_011521283.1:p.Leu573Phe
XM_011522981.3:c.1717C>T	XP_011521283.1:p.Leu573Phe
XM_024450224.1:c.1162C>T	XP_024305992.1:p.Leu388Phe
XR_933266.2:n.2089C>T
NM_015386.3:c.2143C>T MANE Select	NP_056201.2:p.Leu715Phe
NM_001195139.2:c.2068C>T	NP_001182068.2:p.Leu690Phe
NM_001365426.1:c.1717C>T	NP_001352355.1:p.Leu573Phe
NR_158212.1:n.2102C>T