Canonical Allele Identifier: CA371450152
Gene: CNGB3 HGNC NCBI

Linked Data

COSMIC: COSM486731

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671003A>G , CM000670.2:g.86671003A>G GRCh38
NC_000008.10:g.87683231A>G , CM000670.1:g.87683231A>G GRCh37
NC_000008.9:g.87752347A>G NCBI36
NG_016980.1:g.77673T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.434T>C MANE Select ENSP00000316605.5:p.Leu145Pro
ENST00000680314.1:n.195T>C
ENST00000681746.1:c.434T>C ENSP00000505959.1:p.Leu145Pro
ENST00000320005.5:c.434T>C ENSP00000316605.5:p.Leu145Pro
NM_019098.4:c.434T>C NP_061971.3:p.Leu145Pro
XM_011517138.1:c.20T>C XP_011515440.1:p.Leu7Pro
XM_011517138.2:c.20T>C XP_011515440.1:p.Leu7Pro
NM_019098.5:c.434T>C MANE Select NP_061971.3:p.Leu145Pro