Canonical Allele Identifier: CA8083494

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57939594T>C , CM000678.2:g.57939594T>C	GRCh38
NC_000016.9:g.57973498T>C , CM000678.1:g.57973498T>C	GRCh37
NC_000016.8:g.56530999T>C	NCBI36
NG_016351.1:g.36523A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001297.5:c.1210-2A>G MANE Select	NP_001288.3:n.1210-2A>G
ENST00000251102.13:c.1210-2A>G MANE Select	ENSP00000251102.8:n.1210-2A>G
NM_001286130.1:c.1192-2A>G	NP_001273059.1:n.1192-2A>G
NM_001286130.2:c.1192-2A>G	NP_001273059.1:n.1192-2A>G
NM_001297.4:c.1210-2A>G	NP_001288.3:n.1210-2A>G
ENST00000251102.12:c.1210-2A>G	ENSP00000251102.8:n.1210-2A>G
ENST00000564448.5:c.1192-2A>G	ENSP00000454633.1:n.1192-2A>G
ENST00000564654.1:n.331-2A>G
XM_006721134.2:c.1210-2A>G	XP_006721197.1:n.1210-2A>G
XM_011522870.1:c.-208-2A>G	XP_011521172.1:n.-208-2A>G
XM_011522870.2:c.-208-2A>G	XP_011521172.1:n.-208-2A>G