Canonical Allele Identifier: CA1116229978

Gene: CNGB3

Linked Data

• dbSNP Id: rs1823231858

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643492A>G , CM000670.2:g.86643492A>G	GRCh38
NC_000008.10:g.87655720A>G , CM000670.1:g.87655720A>G	GRCh37
NC_000008.9:g.87724836A>G	NCBI36
NG_016980.1:g.105184T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1178+259T>C MANE Select	ENSP00000316605.5:n.1178+259T>C
ENST00000681546.1:n.998+259T>C
ENST00000681746.1:c.1178+259T>C	ENSP00000505959.1:n.1178+259T>C
ENST00000320005.5:c.1178+259T>C	ENSP00000316605.5:n.1178+259T>C
NM_019098.4:c.1178+259T>C	NP_061971.3:n.1178+259T>C
XM_011517138.1:c.764+259T>C	XP_011515440.1:n.764+259T>C
XM_011517138.2:c.764+259T>C	XP_011515440.1:n.764+259T>C
NM_019098.5:c.1178+259T>C MANE Select	NP_061971.3:n.1178+259T>C