Canonical Allele Identifier: CA461831203

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 794980
• ClinVar RCV Id: RCV000978278
• dbSNP Id: rs149945278
• MyVariant Identifiers: chr8:g.87683206T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86670978T>C , CM000670.2:g.86670978T>C	GRCh38
NC_000008.10:g.87683206T>C , CM000670.1:g.87683206T>C	GRCh37
NC_000008.9:g.87752322T>C	NCBI36
NG_016980.1:g.77698A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.459A>G MANE Select	ENSP00000316605.5:p.Gly153=
ENST00000680314.1:n.220A>G
ENST00000681746.1:c.459A>G	ENSP00000505959.1:p.Gly153=
ENST00000320005.5:c.459A>G	ENSP00000316605.5:p.Gly153=
NM_019098.4:c.459A>G	NP_061971.3:p.Gly153=
XM_011517138.1:c.45A>G	XP_011515440.1:p.Gly15=
XM_011517138.2:c.45A>G	XP_011515440.1:p.Gly15=
NM_019098.5:c.459A>G MANE Select	NP_061971.3:p.Gly153=