Canonical Allele Identifier: CA164689482

Gene: COG5

Linked Data

• dbSNP Id: rs986791736
• gnomAD v3: 7-107297948-G-A
• gnomAD v4: 7-107297948-G-A
• MyVariant Identifiers: chr7:g.106938393G>A (hg19) ; chr7:g.107297948G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107297948G>A , CM000669.2:g.107297948G>A	GRCh38
NC_000007.13:g.106938393G>A , CM000669.1:g.106938393G>A	GRCh37
NC_000007.12:g.106725629G>A	NCBI36
NG_028095.1:g.271567C>T
NG_028095.2:g.271567C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297135.9:c.1313+194C>T MANE Select	ENSP00000297135.4:n.1313+194C>T
ENST00000347053.8:c.1313+194C>T	ENSP00000334703.3:n.1313+194C>T
ENST00000393603.7:c.1313+194C>T	ENSP00000377228.3:n.1313+194C>T
ENST00000297135.7:c.1406+194C>T	ENSP00000297135.3:n.1406+194C>T
ENST00000347053.7:c.1406+194C>T	ENSP00000334703.2:n.1406+194C>T
ENST00000393603.6:c.1406+194C>T	ENSP00000377228.2:n.1406+194C>T
NM_001161520.1:c.1406+194C>T	NP_001154992.1:n.1406+194C>T
NM_006348.3:c.1406+194C>T	NP_006339.3:n.1406+194C>T
NM_181733.2:c.1406+194C>T	NP_859422.2:n.1406+194C>T
XM_011515738.1:c.1406+194C>T	XP_011514040.1:n.1406+194C>T
XM_024446634.1:c.1406+194C>T	XP_024302402.1:n.1406+194C>T
NM_001161520.2:c.1313+194C>T	NP_001154992.2:n.1313+194C>T
NM_006348.4:c.1313+194C>T	NP_006339.4:n.1313+194C>T
NM_181733.3:c.1313+194C>T	NP_859422.3:n.1313+194C>T
NM_001379511.1:c.1313+194C>T	NP_001366440.1:n.1313+194C>T
NM_001379512.1:c.1313+194C>T	NP_001366441.1:n.1313+194C>T
NM_001379513.1:c.1313+194C>T	NP_001366442.1:n.1313+194C>T
NM_001379514.1:c.1313+194C>T	NP_001366443.1:n.1313+194C>T
NM_001379515.1:c.743+194C>T	NP_001366444.1:n.743+194C>T
NM_001379516.1:c.599+194C>T	NP_001366445.1:n.599+194C>T
NM_006348.5:c.1313+194C>T MANE Select	NP_006339.4:n.1313+194C>T
NM_181733.4:c.1313+194C>T	NP_859422.3:n.1313+194C>T