Canonical Allele Identifier: CA1116218925

Gene: CNGB3

Linked Data

• dbSNP Id: rs1823837371
• gnomAD v3: 8-86670580-T-G
• gnomAD v4: 8-86670580-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86670580T>G , CM000670.2:g.86670580T>G	GRCh38
NC_000008.10:g.87682808T>G , CM000670.1:g.87682808T>G	GRCh37
NC_000008.9:g.87751924T>G	NCBI36
NG_016980.1:g.78096A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.493+364A>C MANE Select	ENSP00000316605.5:n.493+364A>C
ENST00000680314.1:n.254+364A>C
ENST00000681746.1:c.493+364A>C	ENSP00000505959.1:n.493+364A>C
ENST00000320005.5:c.493+364A>C	ENSP00000316605.5:n.493+364A>C
NM_019098.4:c.493+364A>C	NP_061971.3:n.493+364A>C
XM_011517138.1:c.79+364A>C	XP_011515440.1:n.79+364A>C
XM_011517138.2:c.79+364A>C	XP_011515440.1:n.79+364A>C
NM_019098.5:c.493+364A>C MANE Select	NP_061971.3:n.493+364A>C