Canonical Allele Identifier: CA1116228926
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1821620211
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86574411A>G , CM000670.2:g.86574411A>G GRCh38
NC_000008.10:g.87586639A>G , CM000670.1:g.87586639A>G GRCh37
NC_000008.9:g.87655755A>G NCBI36
NG_016980.1:g.174265T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.*1393T>C MANE Select ENSP00000316605.5:n.*1393T>C
ENST00000681546.1:n.3643T>C
ENST00000681746.1:c.*2234T>C ENSP00000505959.1:n.*2234T>C
ENST00000320005.5:c.*1393T>C ENSP00000316605.5:n.*1393T>C
ENST00000517327.5:c.276+4278T>C ENSP00000428329.1:n.276+4278T>C
NM_019098.4:c.*1393T>C NP_061971.3:n.*1393T>C
XM_011517138.1:c.*1393T>C XP_011515440.1:n.*1393T>C
XM_011517138.2:c.*1393T>C XP_011515440.1:n.*1393T>C
NM_019098.5:c.*1393T>C MANE Select NP_061971.3:n.*1393T>C
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