Canonical Allele Identifier: CA461978621

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87751920A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739692A>T , CM000670.2:g.86739692A>T	GRCh38
NC_000008.10:g.87751920A>T , CM000670.1:g.87751920A>T	GRCh37
NC_000008.9:g.87821036A>T	NCBI36
NG_016980.1:g.8984T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.174T>A MANE Select	ENSP00000316605.5:p.Thr58=
ENST00000681746.1:c.174T>A	ENSP00000505959.1:p.Thr58=
ENST00000320005.5:c.174T>A	ENSP00000316605.5:p.Thr58=
ENST00000519777.1:n.156T>A
NM_019098.4:c.174T>A	NP_061971.3:p.Thr58=
NM_019098.5:c.174T>A MANE Select	NP_061971.3:p.Thr58=