Canonical Allele Identifier: CA1799868701
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632674C= , CM000670.2:g.86632674C= GRCh38
NC_000008.10:g.87644902C= , CM000670.1:g.87644902C= GRCh37
NC_000008.9:g.87714018C= NCBI36
NG_016980.1:g.116002G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1320+78G= MANE Select ENSP00000316605.5:n.1320+78G=
ENST00000681546.1:n.1140+78G=
ENST00000681746.1:c.1320+78G= ENSP00000505959.1:n.1320+78G=
ENST00000320005.5:c.1320+78G= ENSP00000316605.5:n.1320+78G=
NM_019098.4:c.1320+78G= NP_061971.3:n.1320+78G=
XM_011517138.1:c.906+78G= XP_011515440.1:n.906+78G=
XM_011517138.2:c.906+78G= XP_011515440.1:n.906+78G=
NM_019098.5:c.1320+78G= MANE Select NP_061971.3:n.1320+78G=
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