Canonical Allele Identifier: CA2580849466

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86574166C>A , CM000670.2:g.86574166C>A	GRCh38
NC_000008.10:g.87586394C>A , CM000670.1:g.87586394C>A	GRCh37
NC_000008.9:g.87655510C>A	NCBI36
NG_016980.1:g.174510G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681746.1:c.*2479G>T	ENSP00000505959.1:n.*2479G>T
ENST00000320005.5:c.*1638G>T	ENSP00000316605.5:n.*1638G>T
ENST00000517327.5:c.276+4523G>T	ENSP00000428329.1:n.276+4523G>T
NM_019098.4:c.*1638G>T	NP_061971.3:n.*1638G>T
XM_011517138.1:c.*1638G>T	XP_011515440.1:n.*1638G>T
XM_011517138.2:c.*1638G>T	XP_011515440.1:n.*1638G>T