Canonical Allele Identifier: CA1799825598
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643723A= , CM000670.2:g.86643723A= GRCh38
NC_000008.10:g.87655951A= , CM000670.1:g.87655951A= GRCh37
NC_000008.9:g.87725067A= NCBI36
NG_016980.1:g.104953T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1178+28T= MANE Select ENSP00000316605.5:n.1178+28T=
ENST00000681546.1:n.998+28T=
ENST00000681746.1:c.1178+28T= ENSP00000505959.1:n.1178+28T=
ENST00000320005.5:c.1178+28T= ENSP00000316605.5:n.1178+28T=
NM_019098.4:c.1178+28T= NP_061971.3:n.1178+28T=
XM_011517138.1:c.764+28T= XP_011515440.1:n.764+28T=
XM_011517138.2:c.764+28T= XP_011515440.1:n.764+28T=
NM_019098.5:c.1178+28T= MANE Select NP_061971.3:n.1178+28T=