Canonical Allele Identifier: CA371446762
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643782T>G , CM000670.2:g.86643782T>G GRCh38
NC_000008.10:g.87656010T>G , CM000670.1:g.87656010T>G GRCh37
NC_000008.9:g.87725126T>G NCBI36
NG_016980.1:g.104894A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1147A>C MANE Select ENSP00000316605.5:p.Thr383Pro
ENST00000681546.1:n.967A>C
ENST00000681746.1:c.1147A>C ENSP00000505959.1:p.Thr383Pro
ENST00000320005.5:c.1147A>C ENSP00000316605.5:p.Thr383Pro
NM_019098.4:c.1147A>C NP_061971.3:p.Thr383Pro
XM_011517138.1:c.733A>C XP_011515440.1:p.Thr245Pro
XM_011517138.2:c.733A>C XP_011515440.1:p.Thr245Pro
NM_019098.5:c.1147A>C MANE Select NP_061971.3:p.Thr383Pro