Canonical Allele Identifier: CA8082761

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57901407A>C , CM000678.2:g.57901407A>C	GRCh38
NC_000016.9:g.57935311A>C , CM000678.1:g.57935311A>C	GRCh37
NC_000016.8:g.56492812A>C	NCBI36
NG_016351.1:g.74710T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001297.5:c.2921T>G MANE Select	NP_001288.3:p.Met974Arg
ENST00000251102.13:c.2921T>G MANE Select	ENSP00000251102.8:p.Met974Arg
NM_001286130.1:c.2903T>G	NP_001273059.1:p.Met968Arg
NM_001286130.2:c.2903T>G	NP_001273059.1:p.Met968Arg
NM_001297.4:c.2921T>G	NP_001288.3:p.Met974Arg
ENST00000251102.12:c.2921T>G	ENSP00000251102.8:p.Met974Arg
ENST00000564448.5:c.2903T>G	ENSP00000454633.1:p.Met968Arg
ENST00000569643.1:n.578T>G
XM_006721134.2:c.2921T>G	XP_006721197.1:p.Met974Arg
XM_011522870.1:c.1772T>G	XP_011521172.1:p.Met591Arg
XM_011522870.2:c.1772T>G	XP_011521172.1:p.Met591Arg