Canonical Allele Identifier: CA371444271
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87645051A>T (hg19) chr8:g.86632823A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632823A>T , CM000670.2:g.86632823A>T GRCh38
NC_000008.10:g.87645051A>T , CM000670.1:g.87645051A>T GRCh37
NC_000008.9:g.87714167A>T NCBI36
NG_016980.1:g.115853T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1249T>A MANE Select ENSP00000316605.5:p.Leu417Ile
ENST00000681546.1:n.1069T>A
ENST00000681746.1:c.1249T>A ENSP00000505959.1:p.Leu417Ile
ENST00000320005.5:c.1249T>A ENSP00000316605.5:p.Leu417Ile
NM_019098.4:c.1249T>A NP_061971.3:p.Leu417Ile
XM_011517138.1:c.835T>A XP_011515440.1:p.Leu279Ile
XM_011517138.2:c.835T>A XP_011515440.1:p.Leu279Ile
NM_019098.5:c.1249T>A MANE Select NP_061971.3:p.Leu417Ile
Search 100 bp 5'
Search 100 bp 3'