Canonical Allele Identifier: CA2781150515

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643470T>C , CM000670.2:g.86643470T>C	GRCh38
NC_000008.10:g.87655698T>C , CM000670.1:g.87655698T>C	GRCh37
NC_000008.9:g.87724814T>C	NCBI36
NG_016980.1:g.105206A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1178+281A>G MANE Select	ENSP00000316605.5:n.1178+281A>G
ENST00000681546.1:n.998+281A>G
ENST00000681746.1:c.1178+281A>G	ENSP00000505959.1:n.1178+281A>G
ENST00000320005.5:c.1178+281A>G	ENSP00000316605.5:n.1178+281A>G
NM_019098.4:c.1178+281A>G	NP_061971.3:n.1178+281A>G
XM_011517138.1:c.764+281A>G	XP_011515440.1:n.764+281A>G
XM_011517138.2:c.764+281A>G	XP_011515440.1:n.764+281A>G
NM_019098.5:c.1178+281A>G MANE Select	NP_061971.3:n.1178+281A>G