Canonical Allele Identifier: CA7871359
Gene: ADCY9 HGNC NCBI
COSMIC:
COSM1162178 (not active)
MyVariant.info:
GRCh38 chr16:g.3983435T>C
GRCh37 chr16:g.4033436T>C
Revel Score:
ENST00000294016 (MANE Select) 0.112
gnomAD v2:
16:4033436 T / C
gnomAD v3:
16:3983435 T / C
gnomAD v4:
chr16-3983435-T-C
Joint Max Group AF 0.38526819 (EAS)
Genomes Max Group AF 0.38907175 (EAS)
Exomes Max Group AF 0.38321207 (EAS)
dbSNP:
2230739
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3983435T>C , CM000678.2:g.3983435T>C GRCh38
NC_000016.9:g.4033436T>C , CM000678.1:g.4033436T>C GRCh37
NC_000016.8:g.3973437T>C NCBI36
NG_011434.1:g.137751A>G
NG_011434.2:g.137751A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000294016.8:c.2316A>G MANE Select ENSP00000294016.3:p.Ile772Met
ENST00000294016.7:c.2316A>G ENSP00000294016.3:p.Ile772Met
ENST00000574721.1:n.716A>G
ENST00000575550.5:n.526A>G
ENST00000576936.5:c.13A>G
NM_001116.3:c.2316A>G NP_001107.2:p.Ile772Met
XM_005255079.2:c.2373A>G XP_005255136.1:p.Ile791Met
XM_011522353.1:c.2373A>G XP_011520655.1:p.Ile791Met
XM_005255079.3:c.2373A>G XP_005255136.1:p.Ile791Met
XM_011522353.2:c.2373A>G XP_011520655.1:p.Ile791Met
NM_001116.4:c.2316A>G MANE Select NP_001107.2:p.Ile772Met
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