Canonical Allele Identifier: CA371445988

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575819T>A , CM000670.2:g.86575819T>A	GRCh38
NC_000008.10:g.87588047T>A , CM000670.1:g.87588047T>A	GRCh37
NC_000008.9:g.87657163T>A	NCBI36
NG_016980.1:g.172857A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_019098.5:c.2415A>T MANE Select	NP_061971.3:p.Glu805Asp
ENST00000320005.6:c.2415A>T MANE Select	ENSP00000316605.5:p.Glu805Asp
NM_019098.4:c.2415A>T	NP_061971.3:p.Glu805Asp
ENST00000320005.5:c.2415A>T	ENSP00000316605.5:p.Glu805Asp
ENST00000517327.5:c.276+2870A>T	ENSP00000428329.1:n.276+2870A>T
ENST00000681546.1:n.2235A>T
ENST00000681746.1:c.*826A>T	ENSP00000505959.1:n.*826A>T
XM_011517138.1:c.2001A>T	XP_011515440.1:p.Glu667Asp
XM_011517138.2:c.2001A>T	XP_011515440.1:p.Glu667Asp