Canonical Allele Identifier: CA8083139

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57916191G>A , CM000678.2:g.57916191G>A	GRCh38
NC_000016.9:g.57950095G>A , CM000678.1:g.57950095G>A	GRCh37
NC_000016.8:g.56507596G>A	NCBI36
NG_016351.1:g.59926C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001297.5:c.2167-12C>T MANE Select	NP_001288.3:n.2167-12C>T
ENST00000251102.13:c.2167-12C>T MANE Select	ENSP00000251102.8:n.2167-12C>T
NM_001286130.1:c.2149-12C>T	NP_001273059.1:n.2149-12C>T
NM_001286130.2:c.2149-12C>T	NP_001273059.1:n.2149-12C>T
NM_001297.4:c.2167-12C>T	NP_001288.3:n.2167-12C>T
ENST00000251102.12:c.2167-12C>T	ENSP00000251102.8:n.2167-12C>T
ENST00000564448.5:c.2149-12C>T	ENSP00000454633.1:n.2149-12C>T
XM_006721134.2:c.2167-12C>T	XP_006721197.1:n.2167-12C>T
XM_011522870.1:c.1018-12C>T	XP_011521172.1:n.1018-12C>T
XM_011522870.2:c.1018-12C>T	XP_011521172.1:n.1018-12C>T