Canonical Allele Identifier: CA2781156439

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86670643G>C , CM000670.2:g.86670643G>C	GRCh38
NC_000008.10:g.87682871G>C , CM000670.1:g.87682871G>C	GRCh37
NC_000008.9:g.87751987G>C	NCBI36
NG_016980.1:g.78033C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.493+301C>G MANE Select	ENSP00000316605.5:n.493+301C>G
ENST00000680314.1:n.254+301C>G
ENST00000681746.1:c.493+301C>G	ENSP00000505959.1:n.493+301C>G
ENST00000320005.5:c.493+301C>G	ENSP00000316605.5:n.493+301C>G
NM_019098.4:c.493+301C>G	NP_061971.3:n.493+301C>G
XM_011517138.1:c.79+301C>G	XP_011515440.1:n.79+301C>G
XM_011517138.2:c.79+301C>G	XP_011515440.1:n.79+301C>G
NM_019098.5:c.493+301C>G MANE Select	NP_061971.3:n.493+301C>G