Canonical Allele Identifier: CA462114270
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87588269T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576041T>C , CM000670.2:g.86576041T>C GRCh38
NC_000008.10:g.87588269T>C , CM000670.1:g.87588269T>C GRCh37
NC_000008.9:g.87657385T>C NCBI36
NG_016980.1:g.172635A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2193A>G MANE Select ENSP00000316605.5:p.Glu731=
ENST00000681546.1:n.2013A>G
ENST00000681746.1:c.*604A>G ENSP00000505959.1:n.*604A>G
ENST00000320005.5:c.2193A>G ENSP00000316605.5:p.Glu731=
ENST00000517327.5:c.276+2648A>G ENSP00000428329.1:n.276+2648A>G
NM_019098.4:c.2193A>G NP_061971.3:p.Glu731=
XM_011517138.1:c.1779A>G XP_011515440.1:p.Glu593=
XM_011517138.2:c.1779A>G XP_011515440.1:p.Glu593=
NM_019098.5:c.2193A>G MANE Select NP_061971.3:p.Glu731=