Canonical Allele Identifier: CA1799785058
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576263G= , CM000670.2:g.86576263G= GRCh38
NC_000008.10:g.87588491G= , CM000670.1:g.87588491G= GRCh37
NC_000008.9:g.87657607G= NCBI36
NG_016980.1:g.172413C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2104-133C= MANE Select ENSP00000316605.5:n.2104-133C=
ENST00000681546.1:n.1924-133C=
ENST00000681746.1:c.*515-133C= ENSP00000505959.1:n.*515-133C=
ENST00000320005.5:c.2104-133C= ENSP00000316605.5:n.2104-133C=
ENST00000517327.5:c.276+2426C= ENSP00000428329.1:n.276+2426C=
NM_019098.4:c.2104-133C= NP_061971.3:n.2104-133C=
XM_011517138.1:c.1690-133C= XP_011515440.1:n.1690-133C=
XM_011517138.2:c.1690-133C= XP_011515440.1:n.1690-133C=
NM_019098.5:c.2104-133C= MANE Select NP_061971.3:n.2104-133C=
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