Canonical Allele Identifier: CA7960969
Gene: COG7 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.23410291C>T
GRCh37 chr16:g.23421612C>T
gnomAD v2:
16:23421612 C / T
gnomAD v3:
16:23410291 C / T
gnomAD v4:
chr16-23410291-C-T
Joint Max Group AF 0.00007825 (NFE)
Genomes Max Group AF 0.00004765 (NFE)
Exomes Max Group AF 0.00007687 (NFE)
ClinVar RCV:
RCV000290391
ClinVar Variation:
318471
dbSNP:
372160869
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23410291C>T , CM000678.2:g.23410291C>T GRCh38
NC_000016.9:g.23421612C>T , CM000678.1:g.23421612C>T GRCh37
NC_000016.8:g.23329113C>T NCBI36
NG_021287.1:g.47901G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307149.10:c.1475+4G>A MANE Select ENSP00000305442.5:n.1475+4G>A
ENST00000307149.9:c.1475+4G>A ENSP00000305442.5:n.1475+4G>A
ENST00000567821.1:n.510+4G>A
NM_153603.3:c.1475+4G>A NP_705831.1:n.1475+4G>A
XR_429680.1:n.1691+4G>A
XM_017023870.1:c.1280+4G>A XP_016879359.1:n.1280+4G>A
XR_002957852.1:n.1696+4G>A
XR_429680.2:n.1696+4G>A
NM_153603.4:c.1475+4G>A MANE Select NP_705831.1:n.1475+4G>A
Search 100 bp 5'
Search 100 bp 3'