Canonical Allele Identifier: CA2687825027

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86632716-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632716C>G , CM000670.2:g.86632716C>G	GRCh38
NC_000008.10:g.87644944C>G , CM000670.1:g.87644944C>G	GRCh37
NC_000008.9:g.87714060C>G	NCBI36
NG_016980.1:g.115960G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1320+36G>C MANE Select	ENSP00000316605.5:n.1320+36G>C
ENST00000681546.1:n.1140+36G>C
ENST00000681746.1:c.1320+36G>C	ENSP00000505959.1:n.1320+36G>C
ENST00000320005.5:c.1320+36G>C	ENSP00000316605.5:n.1320+36G>C
NM_019098.4:c.1320+36G>C	NP_061971.3:n.1320+36G>C
XM_011517138.1:c.906+36G>C	XP_011515440.1:n.906+36G>C
XM_011517138.2:c.906+36G>C	XP_011515440.1:n.906+36G>C
NM_019098.5:c.1320+36G>C MANE Select	NP_061971.3:n.1320+36G>C