Canonical Allele Identifier: CA396072403

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57939428A>G , CM000678.2:g.57939428A>G	GRCh38
NC_000016.9:g.57973332A>G , CM000678.1:g.57973332A>G	GRCh37
NC_000016.8:g.56530833A>G	NCBI36
NG_016351.1:g.36689T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001297.5:c.1372+2T>C MANE Select	NP_001288.3:n.1372+2T>C
ENST00000251102.13:c.1372+2T>C MANE Select	ENSP00000251102.8:n.1372+2T>C
NM_001286130.1:c.1354+2T>C	NP_001273059.1:n.1354+2T>C
NM_001286130.2:c.1354+2T>C	NP_001273059.1:n.1354+2T>C
NM_001297.4:c.1372+2T>C	NP_001288.3:n.1372+2T>C
ENST00000251102.12:c.1372+2T>C	ENSP00000251102.8:n.1372+2T>C
ENST00000564448.5:c.1354+2T>C	ENSP00000454633.1:n.1354+2T>C
ENST00000564450.1:n.120+2T>C
ENST00000564654.1:n.493+2T>C
XM_006721134.2:c.1372+2T>C	XP_006721197.1:n.1372+2T>C
XM_011522870.1:c.-46+2T>C	XP_011521172.1:n.-46+2T>C
XM_011522870.2:c.-46+2T>C	XP_011521172.1:n.-46+2T>C