Canonical Allele Identifier: CA1799781769
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86574192G= , CM000670.2:g.86574192G= GRCh38
NC_000008.10:g.87586420G= , CM000670.1:g.87586420G= GRCh37
NC_000008.9:g.87655536G= NCBI36
NG_016980.1:g.174484C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*1612C= MANE Select ENSP00000316605.5:n.*1612C=
ENST00000681746.1:c.*2453C= ENSP00000505959.1:n.*2453C=
ENST00000320005.5:c.*1612C= ENSP00000316605.5:n.*1612C=
ENST00000517327.5:c.276+4497C= ENSP00000428329.1:n.276+4497C=
NM_019098.4:c.*1612C= NP_061971.3:n.*1612C=
XM_011517138.1:c.*1612C= XP_011515440.1:n.*1612C=
XM_011517138.2:c.*1612C= XP_011515440.1:n.*1612C=
NM_019098.5:c.*1612C= MANE Select NP_061971.3:n.*1612C=