Canonical Allele Identifier: CA1799868716

Gene: CNGB3

Linked Data

• dbSNP Id: rs1822985128

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632706T>C , CM000670.2:g.86632706T>C	GRCh38
NC_000008.10:g.87644934T>C , CM000670.1:g.87644934T>C	GRCh37
NC_000008.9:g.87714050T>C	NCBI36
NG_016980.1:g.115970A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1320+46A>G MANE Select	ENSP00000316605.5:n.1320+46A>G
ENST00000681546.1:n.1140+46A>G
ENST00000681746.1:c.1320+46A>G	ENSP00000505959.1:n.1320+46A>G
ENST00000320005.5:c.1320+46A>G	ENSP00000316605.5:n.1320+46A>G
NM_019098.4:c.1320+46A>G	NP_061971.3:n.1320+46A>G
XM_011517138.1:c.906+46A>G	XP_011515440.1:n.906+46A>G
XM_011517138.2:c.906+46A>G	XP_011515440.1:n.906+46A>G
NM_019098.5:c.1320+46A>G MANE Select	NP_061971.3:n.1320+46A>G