Canonical Allele Identifier: CA371444103
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86632788-A-C
MyVariant Identifiers: chr8:g.87645016A>C (hg19) chr8:g.86632788A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632788A>C , CM000670.2:g.86632788A>C GRCh38
NC_000008.10:g.87645016A>C , CM000670.1:g.87645016A>C GRCh37
NC_000008.9:g.87714132A>C NCBI36
NG_016980.1:g.115888T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1284T>G MANE Select ENSP00000316605.5:p.Phe428Leu
ENST00000681546.1:n.1104T>G
ENST00000681746.1:c.1284T>G ENSP00000505959.1:p.Phe428Leu
ENST00000320005.5:c.1284T>G ENSP00000316605.5:p.Phe428Leu
NM_019098.4:c.1284T>G NP_061971.3:p.Phe428Leu
XM_011517138.1:c.870T>G XP_011515440.1:p.Phe290Leu
XM_011517138.2:c.870T>G XP_011515440.1:p.Phe290Leu
NM_019098.5:c.1284T>G MANE Select NP_061971.3:p.Phe428Leu
Search 100 bp 5'
Search 100 bp 3'