Canonical Allele Identifier: CA232853

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632864C>T , CM000670.2:g.86632864C>T	GRCh38
NC_000008.10:g.87645092C>T , CM000670.1:g.87645092C>T	GRCh37
NC_000008.9:g.87714208C>T	NCBI36
NG_016980.1:g.115812G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_019098.5:c.1208G>A MANE Select	NP_061971.3:p.Arg403Gln
ENST00000320005.6:c.1208G>A MANE Select	ENSP00000316605.5:p.Arg403Gln
NM_019098.4:c.1208G>A	NP_061971.3:p.Arg403Gln
ENST00000320005.5:c.1208G>A	ENSP00000316605.5:p.Arg403Gln
ENST00000681546.1:n.1028G>A
ENST00000681746.1:c.1208G>A	ENSP00000505959.1:p.Arg403Gln
XM_011517138.1:c.794G>A	XP_011515440.1:p.Arg265Gln
XM_011517138.2:c.794G>A	XP_011515440.1:p.Arg265Gln