Canonical Allele Identifier: CA2580849467
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86574166C>G , CM000670.2:g.86574166C>G GRCh38
NC_000008.10:g.87586394C>G , CM000670.1:g.87586394C>G GRCh37
NC_000008.9:g.87655510C>G NCBI36
NG_016980.1:g.174510G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000681746.1:c.*2479G>C ENSP00000505959.1:n.*2479G>C
ENST00000320005.5:c.*1638G>C ENSP00000316605.5:n.*1638G>C
ENST00000517327.5:c.276+4523G>C ENSP00000428329.1:n.276+4523G>C
NM_019098.4:c.*1638G>C NP_061971.3:n.*1638G>C
XM_011517138.1:c.*1638G>C XP_011515440.1:n.*1638G>C
XM_011517138.2:c.*1638G>C XP_011515440.1:n.*1638G>C
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