Canonical Allele Identifier: CA1799868703
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632676T= , CM000670.2:g.86632676T= GRCh38
NC_000008.10:g.87644904T= , CM000670.1:g.87644904T= GRCh37
NC_000008.9:g.87714020T= NCBI36
NG_016980.1:g.116000A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1320+76A= MANE Select ENSP00000316605.5:n.1320+76A=
ENST00000681546.1:n.1140+76A=
ENST00000681746.1:c.1320+76A= ENSP00000505959.1:n.1320+76A=
ENST00000320005.5:c.1320+76A= ENSP00000316605.5:n.1320+76A=
NM_019098.4:c.1320+76A= NP_061971.3:n.1320+76A=
XM_011517138.1:c.906+76A= XP_011515440.1:n.906+76A=
XM_011517138.2:c.906+76A= XP_011515440.1:n.906+76A=
NM_019098.5:c.1320+76A= MANE Select NP_061971.3:n.1320+76A=