Canonical Allele Identifier: CA371446824
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643811C>T , CM000670.2:g.86643811C>T GRCh38
NC_000008.10:g.87656039C>T , CM000670.1:g.87656039C>T GRCh37
NC_000008.9:g.87725155C>T NCBI36
NG_016980.1:g.104865G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1118G>A MANE Select ENSP00000316605.5:p.Trp373Ter
ENST00000681546.1:n.938G>A
ENST00000681746.1:c.1118G>A ENSP00000505959.1:p.Trp373Ter
ENST00000320005.5:c.1118G>A ENSP00000316605.5:p.Trp373Ter
NM_019098.4:c.1118G>A NP_061971.3:p.Trp373Ter
XM_011517138.1:c.704G>A XP_011515440.1:p.Trp235Ter
XM_011517138.2:c.704G>A XP_011515440.1:p.Trp235Ter
NM_019098.5:c.1118G>A MANE Select NP_061971.3:p.Trp373Ter