Canonical Allele Identifier: CA1799825494
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643535G= , CM000670.2:g.86643535G= GRCh38
NC_000008.10:g.87655763G= , CM000670.1:g.87655763G= GRCh37
NC_000008.9:g.87724879G= NCBI36
NG_016980.1:g.105141C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1178+216C= MANE Select ENSP00000316605.5:n.1178+216C=
ENST00000681546.1:n.998+216C=
ENST00000681746.1:c.1178+216C= ENSP00000505959.1:n.1178+216C=
ENST00000320005.5:c.1178+216C= ENSP00000316605.5:n.1178+216C=
NM_019098.4:c.1178+216C= NP_061971.3:n.1178+216C=
XM_011517138.1:c.764+216C= XP_011515440.1:n.764+216C=
XM_011517138.2:c.764+216C= XP_011515440.1:n.764+216C=
NM_019098.5:c.1178+216C= MANE Select NP_061971.3:n.1178+216C=
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