Canonical Allele Identifier: CA371450054
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670958G>C , CM000670.2:g.86670958G>C GRCh38
NC_000008.10:g.87683186G>C , CM000670.1:g.87683186G>C GRCh37
NC_000008.9:g.87752302G>C NCBI36
NG_016980.1:g.77718C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.479C>G MANE Select ENSP00000316605.5:p.Ala160Gly
ENST00000680314.1:n.240C>G
ENST00000681746.1:c.479C>G ENSP00000505959.1:p.Ala160Gly
ENST00000320005.5:c.479C>G ENSP00000316605.5:p.Ala160Gly
NM_019098.4:c.479C>G NP_061971.3:p.Ala160Gly
XM_011517138.1:c.65C>G XP_011515440.1:p.Ala22Gly
XM_011517138.2:c.65C>G XP_011515440.1:p.Ala22Gly
NM_019098.5:c.479C>G MANE Select NP_061971.3:p.Ala160Gly