Canonical Allele Identifier: CA1799868700
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632673T= , CM000670.2:g.86632673T= GRCh38
NC_000008.10:g.87644901T= , CM000670.1:g.87644901T= GRCh37
NC_000008.9:g.87714017T= NCBI36
NG_016980.1:g.116003A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1320+79A= MANE Select ENSP00000316605.5:n.1320+79A=
ENST00000681546.1:n.1140+79A=
ENST00000681746.1:c.1320+79A= ENSP00000505959.1:n.1320+79A=
ENST00000320005.5:c.1320+79A= ENSP00000316605.5:n.1320+79A=
NM_019098.4:c.1320+79A= NP_061971.3:n.1320+79A=
XM_011517138.1:c.906+79A= XP_011515440.1:n.906+79A=
XM_011517138.2:c.906+79A= XP_011515440.1:n.906+79A=
NM_019098.5:c.1320+79A= MANE Select NP_061971.3:n.1320+79A=