Canonical Allele Identifier: CA371456692

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87751907C>G (hg19) ; chr8:g.86739679C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739679C>G , CM000670.2:g.86739679C>G	GRCh38
NC_000008.10:g.87751907C>G , CM000670.1:g.87751907C>G	GRCh37
NC_000008.9:g.87821023C>G	NCBI36
NG_016980.1:g.8997G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.187G>C MANE Select	ENSP00000316605.5:p.Glu63Gln
ENST00000681746.1:c.187G>C	ENSP00000505959.1:p.Glu63Gln
ENST00000320005.5:c.187G>C	ENSP00000316605.5:p.Glu63Gln
ENST00000519777.1:n.169G>C
NM_019098.4:c.187G>C	NP_061971.3:p.Glu63Gln
NM_019098.5:c.187G>C MANE Select	NP_061971.3:p.Glu63Gln