Canonical Allele Identifier: CA371444252

Gene: CNGB3

Linked Data

• dbSNP Id: rs1563734026
• gnomAD v4: 8-86632819-A-T
• MyVariant Identifiers: chr8:g.87645047A>T (hg19) ; chr8:g.86632819A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632819A>T , CM000670.2:g.86632819A>T	GRCh38
NC_000008.10:g.87645047A>T , CM000670.1:g.87645047A>T	GRCh37
NC_000008.9:g.87714163A>T	NCBI36
NG_016980.1:g.115857T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1253T>A MANE Select	ENSP00000316605.5:p.Phe418Tyr
ENST00000681546.1:n.1073T>A
ENST00000681746.1:c.1253T>A	ENSP00000505959.1:p.Phe418Tyr
ENST00000320005.5:c.1253T>A	ENSP00000316605.5:p.Phe418Tyr
NM_019098.4:c.1253T>A	NP_061971.3:p.Phe418Tyr
XM_011517138.1:c.839T>A	XP_011515440.1:p.Phe280Tyr
XM_011517138.2:c.839T>A	XP_011515440.1:p.Phe280Tyr
NM_019098.5:c.1253T>A MANE Select	NP_061971.3:p.Phe418Tyr