Canonical Allele Identifier: CA396058421

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57904732A>G , CM000678.2:g.57904732A>G	GRCh38
NC_000016.9:g.57938636A>G , CM000678.1:g.57938636A>G	GRCh37
NC_000016.8:g.56496137A>G	NCBI36
NG_016351.1:g.71385T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001297.5:c.2634+2T>C MANE Select	NP_001288.3:n.2634+2T>C
ENST00000251102.13:c.2634+2T>C MANE Select	ENSP00000251102.8:n.2634+2T>C
NM_001286130.1:c.2616+2T>C	NP_001273059.1:n.2616+2T>C
NM_001286130.2:c.2616+2T>C	NP_001273059.1:n.2616+2T>C
NM_001297.4:c.2634+2T>C	NP_001288.3:n.2634+2T>C
ENST00000251102.12:c.2634+2T>C	ENSP00000251102.8:n.2634+2T>C
ENST00000564448.5:c.2616+2T>C	ENSP00000454633.1:n.2616+2T>C
ENST00000569643.1:n.291+2T>C
XM_006721134.2:c.2634+2T>C	XP_006721197.1:n.2634+2T>C
XM_011522870.1:c.1485+2T>C	XP_011521172.1:n.1485+2T>C
XM_011522870.2:c.1485+2T>C	XP_011521172.1:n.1485+2T>C