Canonical Allele Identifier: CA2224857214

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57964088G= , CM000678.2:g.57964088G=	GRCh38
NC_000016.9:g.57997992G= , CM000678.1:g.57997992G=	GRCh37
NC_000016.8:g.56555493G=	NCBI36
NG_016351.1:g.12029C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000251102.13:c.290+42C= MANE Select	ENSP00000251102.8:n.290+42C=
ENST00000251102.12:c.290+42C=	ENSP00000251102.8:n.290+42C=
ENST00000311183.8:c.290+42C=	ENSP00000311670.4:n.290+42C=
ENST00000562761.1:c.290+42C=	ENSP00000455708.1:n.290+42C=
ENST00000564448.5:c.290+42C=	ENSP00000454633.1:n.290+42C=
ENST00000567568.1:n.390C=
NM_001135639.1:c.290+42C=	NP_001129111.1:n.290+42C=
NM_001286130.1:c.290+42C=	NP_001273059.1:n.290+42C=
NM_001297.4:c.290+42C=	NP_001288.3:n.290+42C=
XM_006721134.2:c.290+42C=	XP_006721197.1:n.290+42C=
NM_001135639.2:c.290+42C=	NP_001129111.1:n.290+42C=
NM_001286130.2:c.290+42C=	NP_001273059.1:n.290+42C=
NM_001297.5:c.290+42C= MANE Select	NP_001288.3:n.290+42C=