Canonical Allele Identifier: CA396066798

Gene: CNGB1

Linked Data

• MyVariant Identifiers: chr16:g.57931428C>G (hg19) ; chr16:g.57897524C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57897524C>G , CM000678.2:g.57897524C>G	GRCh38
NC_000016.9:g.57931428C>G , CM000678.1:g.57931428C>G	GRCh37
NC_000016.8:g.56488929C>G	NCBI36
NG_016351.1:g.78593G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.3115G>C MANE Select	ENSP00000251102.8:p.Gly1039Arg
ENST00000251102.12:c.3115G>C	ENSP00000251102.8:p.Gly1039Arg
ENST00000564448.5:c.3097G>C	ENSP00000454633.1:p.Gly1033Arg
ENST00000565942.1:c.161G>C
NM_001286130.1:c.3097G>C	NP_001273059.1:p.Gly1033Arg
NM_001297.4:c.3115G>C	NP_001288.3:p.Gly1039Arg
XM_006721134.2:c.3115G>C	XP_006721197.1:p.Gly1039Arg
XM_011522870.1:c.1966G>C	XP_011521172.1:p.Gly656Arg
XM_011522870.2:c.1966G>C	XP_011521172.1:p.Gly656Arg
NM_001286130.2:c.3097G>C	NP_001273059.1:p.Gly1033Arg
NM_001297.5:c.3115G>C MANE Select	NP_001288.3:p.Gly1039Arg