Canonical Allele Identifier: CA2781156275

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86668226A>C , CM000670.2:g.86668226A>C	GRCh38
NC_000008.10:g.87680454A>C , CM000670.1:g.87680454A>C	GRCh37
NC_000008.9:g.87749570A>C	NCBI36
NG_016980.1:g.80450T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.494-58T>G MANE Select	ENSP00000316605.5:n.494-58T>G
ENST00000680314.1:n.255-58T>G
ENST00000681746.1:c.494-58T>G	ENSP00000505959.1:n.494-58T>G
ENST00000320005.5:c.494-58T>G	ENSP00000316605.5:n.494-58T>G
NM_019098.4:c.494-58T>G	NP_061971.3:n.494-58T>G
XM_011517138.1:c.80-58T>G	XP_011515440.1:n.80-58T>G
XM_011517138.2:c.80-58T>G	XP_011515440.1:n.80-58T>G
NM_019098.5:c.494-58T>G MANE Select	NP_061971.3:n.494-58T>G