Canonical Allele Identifier: CA396580799

Gene: COG4

Linked Data

• dbSNP Id: rs1489818514
• gnomAD v3: 16-70483955-C-G
• gnomAD v4: 16-70483955-C-G
• MyVariant Identifiers: chr16:g.70517858C>G (hg19) ; chr16:g.70483955C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483955C>G , CM000678.2:g.70483955C>G	GRCh38
NC_000016.9:g.70517858C>G , CM000678.1:g.70517858C>G	GRCh37
NC_000016.8:g.69075359C>G	NCBI36
NG_027529.1:g.44600G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1801G>C	ENSP00000461912.2:n.*1801G>C
ENST00000703106.1:c.1770G>C	ENSP00000515173.1:n.1770G>C
ENST00000703107.1:c.*1654G>C	ENSP00000515174.1:n.*1654G>C
ENST00000703108.1:c.*173G>C	ENSP00000515175.1:n.*173G>C
ENST00000703109.1:c.1758G>C	ENSP00000515176.1:p.Lys586Asn
ENST00000703110.1:c.*1227G>C	ENSP00000515177.1:n.*1227G>C
ENST00000703111.1:n.1732G>C
ENST00000703112.1:n.2498G>C
ENST00000703113.1:c.*1138G>C	ENSP00000515178.1:n.*1138G>C
ENST00000703114.1:c.*374G>C	ENSP00000515179.1:n.*374G>C
ENST00000703115.1:c.838G>C	ENSP00000515180.1:n.838G>C
ENST00000323786.10:c.1725G>C MANE Select	ENSP00000315775.5:p.Lys575Asn
ENST00000564415.6:c.*1505G>C	ENSP00000456653.2:n.*1505G>C
ENST00000674443.1:c.1650G>C	ENSP00000501405.1:p.Lys550Asn
ENST00000323786.9:c.1725G>C	ENSP00000315775.5:p.Lys575Asn
ENST00000393612.8:c.1662G>C	ENSP00000377236.5:p.Lys554Asn
ENST00000482252.5:c.1872G>C	ENSP00000432802.1:n.1872G>C
ENST00000526700.5:n.901G>C
ENST00000530314.5:n.2404G>C
ENST00000564315.1:n.185G>C
ENST00000564415.5:c.*1505G>C	ENSP00000456653.1:n.*1505G>C
NM_001195139.1:c.1662G>C	NP_001182068.1:p.Lys554Asn
NM_015386.2:c.1725G>C	NP_056201.2:p.Lys575Asn
XM_011522981.1:c.1299G>C	XP_011521283.1:p.Lys433Asn
XR_933266.1:n.1671G>C
XR_933267.1:n.1671G>C
XM_011522981.3:c.1299G>C	XP_011521283.1:p.Lys433Asn
XM_024450224.1:c.744G>C	XP_024305992.1:p.Lys248Asn
XR_001751889.1:n.1608G>C
XR_933266.2:n.1671G>C
NM_015386.3:c.1725G>C MANE Select	NP_056201.2:p.Lys575Asn
NM_001195139.2:c.1650G>C	NP_001182068.2:p.Lys550Asn
NM_001365426.1:c.1299G>C	NP_001352355.1:p.Lys433Asn
NR_158212.1:n.1684G>C