Canonical Allele Identifier: CA371456670

Gene: CNGB3

Linked Data

• dbSNP Id: rs1825308247
• MyVariant Identifiers: chr8:g.87751897T>C (hg19) ; chr8:g.86739669T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.197A>G MANE Select	ENSP00000316605.5:p.His66Arg
ENST00000681746.1:c.197A>G	ENSP00000505959.1:p.His66Arg
ENST00000320005.5:c.197A>G	ENSP00000316605.5:p.His66Arg
ENST00000519777.1:n.179A>G
NM_019098.4:c.197A>G	NP_061971.3:p.His66Arg
NM_019098.5:c.197A>G MANE Select	NP_061971.3:p.His66Arg