Canonical Allele Identifier: CA461978639

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86739722-A-T
• MyVariant Identifiers: chr8:g.87751950A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739722A>T , CM000670.2:g.86739722A>T	GRCh38
NC_000008.10:g.87751950A>T , CM000670.1:g.87751950A>T	GRCh37
NC_000008.9:g.87821066A>T	NCBI36
NG_016980.1:g.8954T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.144T>A MANE Select	ENSP00000316605.5:p.Gly48=
ENST00000681746.1:c.144T>A	ENSP00000505959.1:p.Gly48=
ENST00000320005.5:c.144T>A	ENSP00000316605.5:p.Gly48=
ENST00000519777.1:n.126T>A
NM_019098.4:c.144T>A	NP_061971.3:p.Gly48=
NM_019098.5:c.144T>A MANE Select	NP_061971.3:p.Gly48=