Canonical Allele Identifier: CA371446826
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643812A>C , CM000670.2:g.86643812A>C GRCh38
NC_000008.10:g.87656040A>C , CM000670.1:g.87656040A>C GRCh37
NC_000008.9:g.87725156A>C NCBI36
NG_016980.1:g.104864T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1117T>G MANE Select ENSP00000316605.5:p.Trp373Gly
ENST00000681546.1:n.937T>G
ENST00000681746.1:c.1117T>G ENSP00000505959.1:p.Trp373Gly
ENST00000320005.5:c.1117T>G ENSP00000316605.5:p.Trp373Gly
NM_019098.4:c.1117T>G NP_061971.3:p.Trp373Gly
XM_011517138.1:c.703T>G XP_011515440.1:p.Trp235Gly
XM_011517138.2:c.703T>G XP_011515440.1:p.Trp235Gly
NM_019098.5:c.1117T>G MANE Select NP_061971.3:p.Trp373Gly