Canonical Allele Identifier: CA7961002
Gene: COG7 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.23413452T>C
GRCh37 chr16:g.23424773T>C
Revel Score:
ENST00000307149 (MANE Select) 0.063
gnomAD v2:
16:23424773 T / C
gnomAD v4:
chr16-23413452-T-C
Joint Max Group AF 0.00000385 (NFE)
Exomes Max Group AF 0.0000041 (NFE)
ClinVar RCV:
RCV000342241
ClinVar Variation:
318475
dbSNP:
751036976
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23413452T>C , CM000678.2:g.23413452T>C GRCh38
NC_000016.9:g.23424773T>C , CM000678.1:g.23424773T>C GRCh37
NC_000016.8:g.23332274T>C NCBI36
NG_021287.1:g.44740A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307149.10:c.1405A>G MANE Select ENSP00000305442.5:p.Ile469Val
ENST00000307149.9:c.1405A>G ENSP00000305442.5:p.Ile469Val
ENST00000567821.1:n.440A>G
NM_153603.3:c.1405A>G NP_705831.1:p.Ile469Val
XR_429680.1:n.1621A>G
XM_017023870.1:c.1210A>G XP_016879359.1:p.Ile404Val
XR_002957852.1:n.1626A>G
XR_429680.2:n.1626A>G
NM_153603.4:c.1405A>G MANE Select NP_705831.1:p.Ile469Val
Search 100 bp 5'
Search 100 bp 3'