Canonical Allele Identifier: CA494173407

Gene: COG7

Linked Data

• ClinVar Variation Id: 3650
• ClinVar RCV Id: RCV000003835
• dbSNP Id: rs1555497568
• gnomAD v4: 16-23452822-T-G
• MyVariant Identifiers: chr16:g.23464143T>G (hg19) ; chr16:g.23452822T>G (hg38)
• PubMed: PMID:15107842 ; PMID:17356545 ; PMID:17395513

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23452822T>G , CM000678.2:g.23452822T>G	GRCh38
NC_000016.9:g.23464143T>G , CM000678.1:g.23464143T>G	GRCh37
NC_000016.8:g.23371644T>G	NCBI36
NG_021287.1:g.5370A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307149.10:c.169+4A>C MANE Select	ENSP00000305442.5:n.169+4A>C
ENST00000307149.9:c.169+4A>C	ENSP00000305442.5:n.169+4A>C
NM_153603.3:c.169+4A>C	NP_705831.1:n.169+4A>C
XR_429680.1:n.385+4A>C
XM_017023870.1:c.-106A>C	XP_016879359.1:n.-106A>C
XR_002957852.1:n.390+4A>C
XR_429680.2:n.390+4A>C
NM_153603.4:c.169+4A>C MANE Select	NP_705831.1:n.169+4A>C