Canonical Allele Identifier: CA8740570
Gene: COG1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.73206754G>A
GRCh37 chr17:g.71202893G>A
Revel Score:
ENST00000438720 0.228
ENST00000299886 (MANE Select) 0.228
gnomAD v2:
17:71202893 G / A
gnomAD v3:
17:73206754 G / A
gnomAD v4:
chr17-73206754-G-A
Joint Max Group AF 0.00004429 (NFE)
Genomes Max Group AF 0.00001976 (NFE)
Exomes Max Group AF 0.00004352 (NFE)
ClinVar RCV:
RCV000346903
RCV000514562
ClinVar Variation:
324975
dbSNP:
148773959
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73206754G>A , CM000679.2:g.73206754G>A GRCh38
NC_000017.10:g.71202893G>A , CM000679.1:g.71202893G>A GRCh37
NC_000017.9:g.68714488G>A NCBI36
NG_008971.1:g.18721G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.2666G>A MANE Select ENSP00000299886.4:p.Arg889Gln
ENST00000299886.8:c.2666G>A ENSP00000299886.4:p.Arg889Gln
ENST00000438720.7:c.2664G>A
ENST00000577238.1:n.372G>A
ENST00000580271.5:n.266G>A
ENST00000582512.5:c.222G>A
ENST00000582672.1:c.151G>A
ENST00000582973.1:c.14G>A ENSP00000462709.1:p.Arg5Gln
ENST00000618996.4:c.2666G>A ENSP00000479450.1:p.Arg889Gln
NM_018714.2:c.2666G>A NP_061184.1:p.Arg889Gln
NM_018714.3:c.2666G>A MANE Select NP_061184.1:p.Arg889Gln
Search 100 bp 5'
Search 100 bp 3'