Canonical Allele Identifier: CA8083759

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57960480A>G , CM000678.2:g.57960480A>G	GRCh38
NC_000016.9:g.57994384A>G , CM000678.1:g.57994384A>G	GRCh37
NC_000016.8:g.56551885A>G	NCBI36
NG_016351.1:g.15637T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001297.5:c.583+2T>C MANE Select	NP_001288.3:n.583+2T>C
ENST00000251102.13:c.583+2T>C MANE Select	ENSP00000251102.8:n.583+2T>C
NM_001135639.1:c.583+2T>C	NP_001129111.1:n.583+2T>C
NM_001135639.2:c.583+2T>C	NP_001129111.1:n.583+2T>C
NM_001286130.1:c.565+20T>C	NP_001273059.1:n.565+20T>C
NM_001286130.2:c.565+20T>C	NP_001273059.1:n.565+20T>C
NM_001297.4:c.583+2T>C	NP_001288.3:n.583+2T>C
ENST00000251102.12:c.583+2T>C	ENSP00000251102.8:n.583+2T>C
ENST00000311183.8:c.583+2T>C	ENSP00000311670.4:n.583+2T>C
ENST00000562761.1:c.583+2T>C	ENSP00000455708.1:n.583+2T>C
ENST00000564448.5:c.565+20T>C	ENSP00000454633.1:n.565+20T>C
XM_006721134.2:c.583+2T>C	XP_006721197.1:n.583+2T>C