Canonical Allele Identifier: CA1799784203

Gene: CNGB3

Linked Data

• dbSNP Id: rs1821648549

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575924_86575927del , CM000670.2:g.86575924_86575927del	GRCh38
NC_000008.10:g.87588152_87588155del , CM000670.1:g.87588152_87588155del	GRCh37
NC_000008.9:g.87657268_87657271del	NCBI36
NG_016980.1:g.172751_172754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2309_2312del MANE Select	ENSP00000316605.5:p.Val770GlufsTer?
ENST00000681546.1:n.2129_2132del
ENST00000681746.1:c.*720_*723del	ENSP00000505959.1:n.*720_*723del
ENST00000320005.5:c.2309_2312del	ENSP00000316605.5:p.Val770GlufsTer?
ENST00000517327.5:c.276+2764_276+2767del	ENSP00000428329.1:n.276+2764_276+2767del
NM_019098.4:c.2309_2312del	NP_061971.3:p.Val770GlufsTer?
XM_011517138.1:c.1895_1898del	XP_011515440.1:p.Val632GlufsTer?
XM_011517138.2:c.1895_1898del	XP_011515440.1:p.Val632GlufsTer?
NM_019098.5:c.2309_2312del MANE Select	NP_061971.3:p.Val770GlufsTer?