Canonical Allele Identifier: CA856374370
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1455095489
MyVariant Identifiers: chr8:g.87586728T>G (hg19) chr8:g.86574500T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86574500T>G , CM000670.2:g.86574500T>G GRCh38
NC_000008.10:g.87586728T>G , CM000670.1:g.87586728T>G GRCh37
NC_000008.9:g.87655844T>G NCBI36
NG_016980.1:g.174176A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*1304A>C MANE Select ENSP00000316605.5:n.*1304A>C
ENST00000681546.1:n.3554A>C
ENST00000681746.1:c.*2145A>C ENSP00000505959.1:n.*2145A>C
ENST00000320005.5:c.*1304A>C ENSP00000316605.5:n.*1304A>C
ENST00000517327.5:c.276+4189A>C ENSP00000428329.1:n.276+4189A>C
NM_019098.4:c.*1304A>C NP_061971.3:n.*1304A>C
XM_011517138.1:c.*1304A>C XP_011515440.1:n.*1304A>C
XM_011517138.2:c.*1304A>C XP_011515440.1:n.*1304A>C
NM_019098.5:c.*1304A>C MANE Select NP_061971.3:n.*1304A>C
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