Canonical Allele Identifier: CA8083878

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57962979C>G , CM000678.2:g.57962979C>G	GRCh38
NC_000016.9:g.57996883C>G , CM000678.1:g.57996883C>G	GRCh37
NC_000016.8:g.56554384C>G	NCBI36
NG_016351.1:g.13138G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001297.5:c.376G>C MANE Select	NP_001288.3:p.Ala126Pro
ENST00000251102.13:c.376G>C MANE Select	ENSP00000251102.8:p.Ala126Pro
NM_001135639.1:c.376G>C	NP_001129111.1:p.Ala126Pro
NM_001135639.2:c.376G>C	NP_001129111.1:p.Ala126Pro
NM_001286130.1:c.376G>C	NP_001273059.1:p.Ala126Pro
NM_001286130.2:c.376G>C	NP_001273059.1:p.Ala126Pro
NM_001297.4:c.376G>C	NP_001288.3:p.Ala126Pro
ENST00000251102.12:c.376G>C	ENSP00000251102.8:p.Ala126Pro
ENST00000311183.8:c.376G>C	ENSP00000311670.4:p.Ala126Pro
ENST00000562761.1:c.376G>C	ENSP00000455708.1:p.Ala126Pro
ENST00000564448.5:c.376G>C	ENSP00000454633.1:p.Ala126Pro
XM_006721134.2:c.376G>C	XP_006721197.1:p.Ala126Pro