Canonical Allele Identifier: CA2579199851
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576205C>T , CM000670.2:g.86576205C>T GRCh38
NC_000008.10:g.87588433C>T , CM000670.1:g.87588433C>T GRCh37
NC_000008.9:g.87657549C>T NCBI36
NG_016980.1:g.172471G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2104-75G>A MANE Select ENSP00000316605.5:n.2104-75G>A
ENST00000681546.1:n.1924-75G>A
ENST00000681746.1:c.*515-75G>A ENSP00000505959.1:n.*515-75G>A
ENST00000320005.5:c.2104-75G>A ENSP00000316605.5:n.2104-75G>A
ENST00000517327.5:c.276+2484G>A ENSP00000428329.1:n.276+2484G>A
NM_019098.4:c.2104-75G>A NP_061971.3:n.2104-75G>A
XM_011517138.1:c.1690-75G>A XP_011515440.1:n.1690-75G>A
XM_011517138.2:c.1690-75G>A XP_011515440.1:n.1690-75G>A
NM_019098.5:c.2104-75G>A MANE Select NP_061971.3:n.2104-75G>A
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