Canonical Allele Identifier: CA371449724
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668034T>C , CM000670.2:g.86668034T>C GRCh38
NC_000008.10:g.87680262T>C , CM000670.1:g.87680262T>C GRCh37
NC_000008.9:g.87749378T>C NCBI36
NG_016980.1:g.80642A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.628A>G MANE Select ENSP00000316605.5:p.Ile210Val
ENST00000681746.1:c.628A>G ENSP00000505959.1:p.Ile210Val
ENST00000320005.5:c.628A>G ENSP00000316605.5:p.Ile210Val
NM_019098.4:c.628A>G NP_061971.3:p.Ile210Val
XM_011517138.1:c.214A>G XP_011515440.1:p.Ile72Val
XM_011517138.2:c.214A>G XP_011515440.1:p.Ile72Val
NM_019098.5:c.628A>G MANE Select NP_061971.3:p.Ile210Val