Canonical Allele Identifier: CA8083442

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57931881G>T , CM000678.2:g.57931881G>T	GRCh38
NC_000016.9:g.57965785G>T , CM000678.1:g.57965785G>T	GRCh37
NC_000016.8:g.56523286G>T	NCBI36
NG_016351.1:g.44236C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001297.5:c.1373-3C>A MANE Select	NP_001288.3:n.1373-3C>A
ENST00000251102.13:c.1373-3C>A MANE Select	ENSP00000251102.8:n.1373-3C>A
NM_001286130.1:c.1355-3C>A	NP_001273059.1:n.1355-3C>A
NM_001286130.2:c.1355-3C>A	NP_001273059.1:n.1355-3C>A
NM_001297.4:c.1373-3C>A	NP_001288.3:n.1373-3C>A
ENST00000251102.12:c.1373-3C>A	ENSP00000251102.8:n.1373-3C>A
ENST00000564448.5:c.1355-3C>A	ENSP00000454633.1:n.1355-3C>A
ENST00000564450.1:n.120+7549C>A
ENST00000564654.1:n.762-3C>A
XM_006721134.2:c.1373-3C>A	XP_006721197.1:n.1373-3C>A
XM_011522870.1:c.224-3C>A	XP_011521172.1:n.224-3C>A
XM_011522870.2:c.224-3C>A	XP_011521172.1:n.224-3C>A