Canonical Allele Identifier: CA371450046
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670954G>C , CM000670.2:g.86670954G>C GRCh38
NC_000008.10:g.87683182G>C , CM000670.1:g.87683182G>C GRCh37
NC_000008.9:g.87752298G>C NCBI36
NG_016980.1:g.77722C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.483C>G MANE Select ENSP00000316605.5:p.Ser161Arg
ENST00000680314.1:n.244C>G
ENST00000681746.1:c.483C>G ENSP00000505959.1:p.Ser161Arg
ENST00000320005.5:c.483C>G ENSP00000316605.5:p.Ser161Arg
NM_019098.4:c.483C>G NP_061971.3:p.Ser161Arg
XM_011517138.1:c.69C>G XP_011515440.1:p.Ser23Arg
XM_011517138.2:c.69C>G XP_011515440.1:p.Ser23Arg
NM_019098.5:c.483C>G MANE Select NP_061971.3:p.Ser161Arg