Canonical Allele Identifier: CA4799998
Gene: CNGB3 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.86626069A>T
GRCh37 chr8:g.87638297A>T
Revel Score:
ENST00000320005 (MANE Select) 0.457
gnomAD v2:
8:87638297 A / T
gnomAD v3:
8:86626069 A / T
gnomAD v4:
chr8-86626069-A-T
Joint Max Group AF 0.00996475 (AFR)
Genomes Max Group AF 0.01023005 (AFR)
Exomes Max Group AF 0.0090849 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86626069A>T , CM000670.2:g.86626069A>T GRCh38
NC_000008.10:g.87638297A>T , CM000670.1:g.87638297A>T GRCh37
NC_000008.9:g.87707413A>T NCBI36
NG_016980.1:g.122607T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1492T>A MANE Select ENSP00000316605.5:p.Leu498Met
ENST00000681546.1:n.1312T>A
ENST00000681746.1:c.1492T>A ENSP00000505959.1:p.Leu498Met
ENST00000320005.5:c.1492T>A ENSP00000316605.5:p.Leu498Met
NM_019098.4:c.1492T>A NP_061971.3:p.Leu498Met
XM_011517138.1:c.1078T>A XP_011515440.1:p.Leu360Met
XR_928378.1:n.67-515A>T
XR_928379.1:n.75-515A>T
XM_011517138.2:c.1078T>A XP_011515440.1:p.Leu360Met
NM_019098.5:c.1492T>A MANE Select NP_061971.3:p.Leu498Met
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