Canonical Allele Identifier: CA461978609
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87751908A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739680A>G , CM000670.2:g.86739680A>G GRCh38
NC_000008.10:g.87751908A>G , CM000670.1:g.87751908A>G GRCh37
NC_000008.9:g.87821024A>G NCBI36
NG_016980.1:g.8996T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.186T>C MANE Select ENSP00000316605.5:p.Ser62=
ENST00000681746.1:c.186T>C ENSP00000505959.1:p.Ser62=
ENST00000320005.5:c.186T>C ENSP00000316605.5:p.Ser62=
ENST00000519777.1:n.168T>C
NM_019098.4:c.186T>C NP_061971.3:p.Ser62=
NM_019098.5:c.186T>C MANE Select NP_061971.3:p.Ser62=