Canonical Allele Identifier: CA461978642
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87751959T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739731T>C , CM000670.2:g.86739731T>C GRCh38
NC_000008.10:g.87751959T>C , CM000670.1:g.87751959T>C GRCh37
NC_000008.9:g.87821075T>C NCBI36
NG_016980.1:g.8945A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.135A>G MANE Select ENSP00000316605.5:p.Glu45=
ENST00000681746.1:c.135A>G ENSP00000505959.1:p.Glu45=
ENST00000320005.5:c.135A>G ENSP00000316605.5:p.Glu45=
ENST00000519777.1:n.117A>G
NM_019098.4:c.135A>G NP_061971.3:p.Glu45=
NM_019098.5:c.135A>G MANE Select NP_061971.3:p.Glu45=