Canonical Allele Identifier: CA8083175

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57917330A>T , CM000678.2:g.57917330A>T	GRCh38
NC_000016.9:g.57951234A>T , CM000678.1:g.57951234A>T	GRCh37
NC_000016.8:g.56508735A>T	NCBI36
NG_016351.1:g.58787T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001297.5:c.2104T>A MANE Select	NP_001288.3:p.Tyr702Asn
ENST00000251102.13:c.2104T>A MANE Select	ENSP00000251102.8:p.Tyr702Asn
NM_001286130.1:c.2086T>A	NP_001273059.1:p.Tyr696Asn
NM_001286130.2:c.2086T>A	NP_001273059.1:p.Tyr696Asn
NM_001297.4:c.2104T>A	NP_001288.3:p.Tyr702Asn
ENST00000251102.12:c.2104T>A	ENSP00000251102.8:p.Tyr702Asn
ENST00000564448.5:c.2086T>A	ENSP00000454633.1:p.Tyr696Asn
XM_006721134.2:c.2104T>A	XP_006721197.1:p.Tyr702Asn
XM_011522870.1:c.955T>A	XP_011521172.1:p.Tyr319Asn
XM_011522870.2:c.955T>A	XP_011521172.1:p.Tyr319Asn