Canonical Allele Identifier: CA371450242
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671046G>C , CM000670.2:g.86671046G>C GRCh38
NC_000008.10:g.87683274G>C , CM000670.1:g.87683274G>C GRCh37
NC_000008.9:g.87752390G>C NCBI36
NG_016980.1:g.77630C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.391C>G MANE Select ENSP00000316605.5:p.Gln131Glu
ENST00000680314.1:n.152C>G
ENST00000681746.1:c.391C>G ENSP00000505959.1:p.Gln131Glu
ENST00000320005.5:c.391C>G ENSP00000316605.5:p.Gln131Glu
NM_019098.4:c.391C>G NP_061971.3:p.Gln131Glu
XM_011517138.1:c.-24C>G XP_011515440.1:n.-24C>G
XM_011517138.2:c.-24C>G XP_011515440.1:n.-24C>G
NM_019098.5:c.391C>G MANE Select NP_061971.3:p.Gln131Glu