Canonical Allele Identifier: CA2224857255
Gene: CNGB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.57964161C= , CM000678.2:g.57964161C= GRCh38
NC_000016.9:g.57998065C= , CM000678.1:g.57998065C= GRCh37
NC_000016.8:g.56555566C= NCBI36
NG_016351.1:g.11956G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000251102.13:c.259G= MANE Select ENSP00000251102.8:p.Ala87=
ENST00000251102.12:c.259G= ENSP00000251102.8:p.Ala87=
ENST00000311183.8:c.259G= ENSP00000311670.4:p.Ala87=
ENST00000562761.1:c.259G= ENSP00000455708.1:p.Ala87=
ENST00000564448.5:c.259G= ENSP00000454633.1:p.Ala87=
ENST00000567568.1:n.317G=
NM_001135639.1:c.259G= NP_001129111.1:p.Ala87=
NM_001286130.1:c.259G= NP_001273059.1:p.Ala87=
NM_001297.4:c.259G= NP_001288.3:p.Ala87=
XM_006721134.2:c.259G= XP_006721197.1:p.Ala87=
NM_001135639.2:c.259G= NP_001129111.1:p.Ala87=
NM_001286130.2:c.259G= NP_001273059.1:p.Ala87=
NM_001297.5:c.259G= MANE Select NP_001288.3:p.Ala87=