Canonical Allele Identifier: CA371445966

Gene: CNGB3

Linked Data

• MyVariant Identifiers: chr8:g.87588037G>C (hg19) ; chr8:g.86575809G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575809G>C , CM000670.2:g.86575809G>C	GRCh38
NC_000008.10:g.87588037G>C , CM000670.1:g.87588037G>C	GRCh37
NC_000008.9:g.87657153G>C	NCBI36
NG_016980.1:g.172867C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2425C>G MANE Select	ENSP00000316605.5:p.Gln809Glu
ENST00000681546.1:n.2245C>G
ENST00000681746.1:c.*836C>G	ENSP00000505959.1:n.*836C>G
ENST00000320005.5:c.2425C>G	ENSP00000316605.5:p.Gln809Glu
ENST00000517327.5:c.276+2880C>G	ENSP00000428329.1:n.276+2880C>G
NM_019098.4:c.2425C>G	NP_061971.3:p.Gln809Glu
XM_011517138.1:c.2011C>G	XP_011515440.1:p.Gln671Glu
XM_011517138.2:c.2011C>G	XP_011515440.1:p.Gln671Glu
NM_019098.5:c.2425C>G MANE Select	NP_061971.3:p.Gln809Glu