Canonical Allele Identifier: CA7960978

Gene: COG7

Linked Data

• ClinVar Variation Id: 318473
• ClinVar RCV Id: RCV000395657
• dbSNP Id: rs369925503
• ExAC: 16:23421687 C / G
• gnomAD v2: 16-23421687-C-G
• gnomAD v3: 16-23410366-C-G
• gnomAD v4: 16-23410366-C-G
• MyVariant Identifiers: chr16:g.23421687C>G (hg19) ; chr16:g.23410366C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23410366C>G , CM000678.2:g.23410366C>G	GRCh38
NC_000016.9:g.23421687C>G , CM000678.1:g.23421687C>G	GRCh37
NC_000016.8:g.23329188C>G	NCBI36
NG_021287.1:g.47826G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307149.10:c.1410-6G>C MANE Select	ENSP00000305442.5:n.1410-6G>C
ENST00000307149.9:c.1410-6G>C	ENSP00000305442.5:n.1410-6G>C
ENST00000567821.1:n.445-6G>C
NM_153603.3:c.1410-6G>C	NP_705831.1:n.1410-6G>C
XR_429680.1:n.1626-6G>C
XM_017023870.1:c.1215-6G>C	XP_016879359.1:n.1215-6G>C
XR_002957852.1:n.1631-6G>C
XR_429680.2:n.1631-6G>C
NM_153603.4:c.1410-6G>C MANE Select	NP_705831.1:n.1410-6G>C