Canonical Allele Identifier: CA462114079
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87588041A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575813A>G , CM000670.2:g.86575813A>G GRCh38
NC_000008.10:g.87588041A>G , CM000670.1:g.87588041A>G GRCh37
NC_000008.9:g.87657157A>G NCBI36
NG_016980.1:g.172863T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2421T>C MANE Select ENSP00000316605.5:p.Ala807=
ENST00000681546.1:n.2241T>C
ENST00000681746.1:c.*832T>C ENSP00000505959.1:n.*832T>C
ENST00000320005.5:c.2421T>C ENSP00000316605.5:p.Ala807=
ENST00000517327.5:c.276+2876T>C ENSP00000428329.1:n.276+2876T>C
NM_019098.4:c.2421T>C NP_061971.3:p.Ala807=
XM_011517138.1:c.2007T>C XP_011515440.1:p.Ala669=
XM_011517138.2:c.2007T>C XP_011515440.1:p.Ala669=
NM_019098.5:c.2421T>C MANE Select NP_061971.3:p.Ala807=