Canonical Allele Identifier: CA371445980
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575815C>G , CM000670.2:g.86575815C>G GRCh38
NC_000008.10:g.87588043C>G , CM000670.1:g.87588043C>G GRCh37
NC_000008.9:g.87657159C>G NCBI36
NG_016980.1:g.172861G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2419G>C MANE Select ENSP00000316605.5:p.Ala807Pro
ENST00000681546.1:n.2239G>C
ENST00000681746.1:c.*830G>C ENSP00000505959.1:n.*830G>C
ENST00000320005.5:c.2419G>C ENSP00000316605.5:p.Ala807Pro
ENST00000517327.5:c.276+2874G>C ENSP00000428329.1:n.276+2874G>C
NM_019098.4:c.2419G>C NP_061971.3:p.Ala807Pro
XM_011517138.1:c.2005G>C XP_011515440.1:p.Ala669Pro
XM_011517138.2:c.2005G>C XP_011515440.1:p.Ala669Pro
NM_019098.5:c.2419G>C MANE Select NP_061971.3:p.Ala807Pro