Canonical Allele Identifier: CA180328165
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs936874713
MyVariant Identifiers: chr8:g.87586495C>T (hg19) chr8:g.86574267C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86574267C>T , CM000670.2:g.86574267C>T GRCh38
NC_000008.10:g.87586495C>T , CM000670.1:g.87586495C>T GRCh37
NC_000008.9:g.87655611C>T NCBI36
NG_016980.1:g.174409G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.*1537G>A MANE Select ENSP00000316605.5:n.*1537G>A
ENST00000681546.1:n.3787G>A
ENST00000681746.1:c.*2378G>A ENSP00000505959.1:n.*2378G>A
ENST00000320005.5:c.*1537G>A ENSP00000316605.5:n.*1537G>A
ENST00000517327.5:c.276+4422G>A ENSP00000428329.1:n.276+4422G>A
NM_019098.4:c.*1537G>A NP_061971.3:n.*1537G>A
XM_011517138.1:c.*1537G>A XP_011515440.1:n.*1537G>A
XM_011517138.2:c.*1537G>A XP_011515440.1:n.*1537G>A
NM_019098.5:c.*1537G>A MANE Select NP_061971.3:n.*1537G>A
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