Canonical Allele Identifier: CA2687827361

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86670807-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86670807G>A , CM000670.2:g.86670807G>A	GRCh38
NC_000008.10:g.87683035G>A , CM000670.1:g.87683035G>A	GRCh37
NC_000008.9:g.87752151G>A	NCBI36
NG_016980.1:g.77869C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.493+137C>T MANE Select	ENSP00000316605.5:n.493+137C>T
ENST00000680314.1:n.254+137C>T
ENST00000681746.1:c.493+137C>T	ENSP00000505959.1:n.493+137C>T
ENST00000320005.5:c.493+137C>T	ENSP00000316605.5:n.493+137C>T
NM_019098.4:c.493+137C>T	NP_061971.3:n.493+137C>T
XM_011517138.1:c.79+137C>T	XP_011515440.1:n.79+137C>T
XM_011517138.2:c.79+137C>T	XP_011515440.1:n.79+137C>T
NM_019098.5:c.493+137C>T MANE Select	NP_061971.3:n.493+137C>T