Canonical Allele Identifier: CA202504

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 196674
• ClinVar RCV Id: RCV000177529 ; RCV000761936 ; RCV000989610 ; RCV002517713 ; RCV003937605
• dbSNP Id: rs148999583
• ExAC: 16:57931428 C / T
• gnomAD v2: 16-57931428-C-T
• gnomAD v3: 16-57897524-C-T
• gnomAD v4: 16-57897524-C-T
• MyVariant Identifiers: chr16:g.57931428C>T (hg19) ; chr16:g.57897524C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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