Canonical Allele Identifier: CA4799986
Gene: CNGB3 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.86626027T>C
GRCh37 chr8:g.87638255T>C
Revel Score:
ENST00000320005 (MANE Select) 0.215
gnomAD v2:
8:87638255 T / C
gnomAD v3:
8:86626027 T / C
gnomAD v4:
chr8-86626027-T-C
Joint Max Group AF 0.00137958 (NFE)
Genomes Max Group AF 0.0013172 (NFE)
Exomes Max Group AF 0.00137051 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86626027T>C , CM000670.2:g.86626027T>C GRCh38
NC_000008.10:g.87638255T>C , CM000670.1:g.87638255T>C GRCh37
NC_000008.9:g.87707371T>C NCBI36
NG_016980.1:g.122649A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1534A>G MANE Select ENSP00000316605.5:p.Ile512Val
ENST00000681546.1:n.1354A>G
ENST00000681746.1:c.1534A>G ENSP00000505959.1:p.Ile512Val
ENST00000320005.5:c.1534A>G ENSP00000316605.5:p.Ile512Val
NM_019098.4:c.1534A>G NP_061971.3:p.Ile512Val
XM_011517138.1:c.1120A>G XP_011515440.1:p.Ile374Val
XR_928378.1:n.67-557T>C
XR_928379.1:n.75-557T>C
XM_011517138.2:c.1120A>G XP_011515440.1:p.Ile374Val
NM_019098.5:c.1534A>G MANE Select NP_061971.3:p.Ile512Val
Search 100 bp 5'
Search 100 bp 3'