Canonical Allele Identifier: CA461814168
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87645112T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632884T>C , CM000670.2:g.86632884T>C GRCh38
NC_000008.10:g.87645112T>C , CM000670.1:g.87645112T>C GRCh37
NC_000008.9:g.87714228T>C NCBI36
NG_016980.1:g.115792A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1188A>G MANE Select ENSP00000316605.5:p.Arg396=
ENST00000681546.1:n.1008A>G
ENST00000681746.1:c.1188A>G ENSP00000505959.1:p.Arg396=
ENST00000320005.5:c.1188A>G ENSP00000316605.5:p.Arg396=
NM_019098.4:c.1188A>G NP_061971.3:p.Arg396=
XM_011517138.1:c.774A>G XP_011515440.1:p.Arg258=
XM_011517138.2:c.774A>G XP_011515440.1:p.Arg258=
NM_019098.5:c.1188A>G MANE Select NP_061971.3:p.Arg396=
Search 100 bp 5'
Search 100 bp 3'