Canonical Allele Identifier: CA371456669

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87751897T>A (hg19) ; chr8:g.86739669T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739669T>A , CM000670.2:g.86739669T>A	GRCh38
NC_000008.10:g.87751897T>A , CM000670.1:g.87751897T>A	GRCh37
NC_000008.9:g.87821013T>A	NCBI36
NG_016980.1:g.9007A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.197A>T MANE Select	ENSP00000316605.5:p.His66Leu
ENST00000681746.1:c.197A>T	ENSP00000505959.1:p.His66Leu
ENST00000320005.5:c.197A>T	ENSP00000316605.5:p.His66Leu
ENST00000519777.1:n.179A>T
NM_019098.4:c.197A>T	NP_061971.3:p.His66Leu
NM_019098.5:c.197A>T MANE Select	NP_061971.3:p.His66Leu