Canonical Allele Identifier: CA371444226
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87645042T>G (hg19) chr8:g.86632814T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632814T>G , CM000670.2:g.86632814T>G GRCh38
NC_000008.10:g.87645042T>G , CM000670.1:g.87645042T>G GRCh37
NC_000008.9:g.87714158T>G NCBI36
NG_016980.1:g.115862A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1258A>C MANE Select ENSP00000316605.5:p.Ile420Leu
ENST00000681546.1:n.1078A>C
ENST00000681746.1:c.1258A>C ENSP00000505959.1:p.Ile420Leu
ENST00000320005.5:c.1258A>C ENSP00000316605.5:p.Ile420Leu
NM_019098.4:c.1258A>C NP_061971.3:p.Ile420Leu
XM_011517138.1:c.844A>C XP_011515440.1:p.Ile282Leu
XM_011517138.2:c.844A>C XP_011515440.1:p.Ile282Leu
NM_019098.5:c.1258A>C MANE Select NP_061971.3:p.Ile420Leu
Search 100 bp 5'
Search 100 bp 3'