Canonical Allele Identifier: CA1799825691
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643778C= , CM000670.2:g.86643778C= GRCh38
NC_000008.10:g.87656006C= , CM000670.1:g.87656006C= GRCh37
NC_000008.9:g.87725122C= NCBI36
NG_016980.1:g.104898G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1151G= MANE Select ENSP00000316605.5:p.Arg384=
ENST00000681546.1:n.971G=
ENST00000681746.1:c.1151G= ENSP00000505959.1:p.Arg384=
ENST00000320005.5:c.1151G= ENSP00000316605.5:p.Arg384=
NM_019098.4:c.1151G= NP_061971.3:p.Arg384=
XM_011517138.1:c.737G= XP_011515440.1:p.Arg246=
XM_011517138.2:c.737G= XP_011515440.1:p.Arg246=
NM_019098.5:c.1151G= MANE Select NP_061971.3:p.Arg384=