Canonical Allele Identifier: CA371456780
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739721C>G , CM000670.2:g.86739721C>G GRCh38
NC_000008.10:g.87751949C>G , CM000670.1:g.87751949C>G GRCh37
NC_000008.9:g.87821065C>G NCBI36
NG_016980.1:g.8955G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.145G>C MANE Select ENSP00000316605.5:p.Glu49Gln
ENST00000681746.1:c.145G>C ENSP00000505959.1:p.Glu49Gln
ENST00000320005.5:c.145G>C ENSP00000316605.5:p.Glu49Gln
ENST00000519777.1:n.127G>C
NM_019098.4:c.145G>C NP_061971.3:p.Glu49Gln
NM_019098.5:c.145G>C MANE Select NP_061971.3:p.Glu49Gln