Canonical Allele Identifier: CA371446151
Gene: CNGB3 HGNC NCBI

Linked Data

COSMIC: COSM1102205
MyVariant Identifiers: chr8:g.87588127T>C (hg19) chr8:g.86575899T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575899T>C , CM000670.2:g.86575899T>C GRCh38
NC_000008.10:g.87588127T>C , CM000670.1:g.87588127T>C GRCh37
NC_000008.9:g.87657243T>C NCBI36
NG_016980.1:g.172777A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2335A>G MANE Select ENSP00000316605.5:p.Thr779Ala
ENST00000681546.1:n.2155A>G
ENST00000681746.1:c.*746A>G ENSP00000505959.1:n.*746A>G
ENST00000320005.5:c.2335A>G ENSP00000316605.5:p.Thr779Ala
ENST00000517327.5:c.276+2790A>G ENSP00000428329.1:n.276+2790A>G
NM_019098.4:c.2335A>G NP_061971.3:p.Thr779Ala
XM_011517138.1:c.1921A>G XP_011515440.1:p.Thr641Ala
XM_011517138.2:c.1921A>G XP_011515440.1:p.Thr641Ala
NM_019098.5:c.2335A>G MANE Select NP_061971.3:p.Thr779Ala
Search 100 bp 5'
Search 100 bp 3'