Canonical Allele Identifier: CA2535058678
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670711G>T , CM000670.2:g.86670711G>T GRCh38
NC_000008.10:g.87682939G>T , CM000670.1:g.87682939G>T GRCh37
NC_000008.9:g.87752055G>T NCBI36
NG_016980.1:g.77965C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.493+233C>A MANE Select ENSP00000316605.5:n.493+233C>A
ENST00000680314.1:n.254+233C>A
ENST00000681746.1:c.493+233C>A ENSP00000505959.1:n.493+233C>A
ENST00000320005.5:c.493+233C>A ENSP00000316605.5:n.493+233C>A
NM_019098.4:c.493+233C>A NP_061971.3:n.493+233C>A
XM_011517138.1:c.79+233C>A XP_011515440.1:n.79+233C>A
XM_011517138.2:c.79+233C>A XP_011515440.1:n.79+233C>A
NM_019098.5:c.493+233C>A MANE Select NP_061971.3:n.493+233C>A
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