Canonical Allele Identifier: CA1799868707
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632688A= , CM000670.2:g.86632688A= GRCh38
NC_000008.10:g.87644916A= , CM000670.1:g.87644916A= GRCh37
NC_000008.9:g.87714032A= NCBI36
NG_016980.1:g.115988T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1320+64T= MANE Select ENSP00000316605.5:n.1320+64T=
ENST00000681546.1:n.1140+64T=
ENST00000681746.1:c.1320+64T= ENSP00000505959.1:n.1320+64T=
ENST00000320005.5:c.1320+64T= ENSP00000316605.5:n.1320+64T=
NM_019098.4:c.1320+64T= NP_061971.3:n.1320+64T=
XM_011517138.1:c.906+64T= XP_011515440.1:n.906+64T=
XM_011517138.2:c.906+64T= XP_011515440.1:n.906+64T=
NM_019098.5:c.1320+64T= MANE Select NP_061971.3:n.1320+64T=