Canonical Allele Identifier: CA371456713
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739690G>T , CM000670.2:g.86739690G>T GRCh38
NC_000008.10:g.87751918G>T , CM000670.1:g.87751918G>T GRCh37
NC_000008.9:g.87821034G>T NCBI36
NG_016980.1:g.8986C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.176C>A MANE Select ENSP00000316605.5:p.Pro59Gln
ENST00000681746.1:c.176C>A ENSP00000505959.1:p.Pro59Gln
ENST00000320005.5:c.176C>A ENSP00000316605.5:p.Pro59Gln
ENST00000519777.1:n.158C>A
NM_019098.4:c.176C>A NP_061971.3:p.Pro59Gln
NM_019098.5:c.176C>A MANE Select NP_061971.3:p.Pro59Gln