Canonical Allele Identifier: CA1799825548
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643652G= , CM000670.2:g.86643652G= GRCh38
NC_000008.10:g.87655880G= , CM000670.1:g.87655880G= GRCh37
NC_000008.9:g.87724996G= NCBI36
NG_016980.1:g.105024C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1178+99C= MANE Select ENSP00000316605.5:n.1178+99C=
ENST00000681546.1:n.998+99C=
ENST00000681746.1:c.1178+99C= ENSP00000505959.1:n.1178+99C=
ENST00000320005.5:c.1178+99C= ENSP00000316605.5:n.1178+99C=
NM_019098.4:c.1178+99C= NP_061971.3:n.1178+99C=
XM_011517138.1:c.764+99C= XP_011515440.1:n.764+99C=
XM_011517138.2:c.764+99C= XP_011515440.1:n.764+99C=
NM_019098.5:c.1178+99C= MANE Select NP_061971.3:n.1178+99C=