Canonical Allele Identifier: CA1799829351

Gene: CNGB3

Linked Data

• dbSNP Id: rs1823843479
• gnomAD v4: 8-86670808-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86670808G>A , CM000670.2:g.86670808G>A	GRCh38
NC_000008.10:g.87683036G>A , CM000670.1:g.87683036G>A	GRCh37
NC_000008.9:g.87752152G>A	NCBI36
NG_016980.1:g.77868C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.493+136C>T MANE Select	ENSP00000316605.5:n.493+136C>T
ENST00000680314.1:n.254+136C>T
ENST00000681746.1:c.493+136C>T	ENSP00000505959.1:n.493+136C>T
ENST00000320005.5:c.493+136C>T	ENSP00000316605.5:n.493+136C>T
NM_019098.4:c.493+136C>T	NP_061971.3:n.493+136C>T
XM_011517138.1:c.79+136C>T	XP_011515440.1:n.79+136C>T
XM_011517138.2:c.79+136C>T	XP_011515440.1:n.79+136C>T
NM_019098.5:c.493+136C>T MANE Select	NP_061971.3:n.493+136C>T