Canonical Allele Identifier: CA8083519

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57940264G>A , CM000678.2:g.57940264G>A	GRCh38
NC_000016.9:g.57974168G>A , CM000678.1:g.57974168G>A	GRCh37
NC_000016.8:g.56531669G>A	NCBI36
NG_016351.1:g.35853C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001297.5:c.1179C>T MANE Select	NP_001288.3:p.Asp393=
ENST00000251102.13:c.1179C>T MANE Select	ENSP00000251102.8:p.Asp393=
NM_001286130.1:c.1161C>T	NP_001273059.1:p.Asp387=
NM_001286130.2:c.1161C>T	NP_001273059.1:p.Asp387=
NM_001297.4:c.1179C>T	NP_001288.3:p.Asp393=
ENST00000251102.12:c.1179C>T	ENSP00000251102.8:p.Asp393=
ENST00000564448.5:c.1161C>T	ENSP00000454633.1:p.Asp387=
ENST00000564654.1:n.300C>T
XM_006721134.2:c.1179C>T	XP_006721197.1:p.Asp393=
XM_011522870.1:c.-239C>T	XP_011521172.1:n.-239C>T
XM_011522870.2:c.-239C>T	XP_011521172.1:n.-239C>T