Canonical Allele Identifier: CA8082505

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 320058
• ClinVar RCV Id: RCV000364070 ; RCV001358311 ; RCV002522880 ; RCV003922352
• dbSNP Id: rs543712958
• ExAC: 16:57918264 C / T
• gnomAD v2: 16-57918264-C-T
• gnomAD v3: 16-57884360-C-T
• gnomAD v4: 16-57884360-C-T
• MyVariant Identifiers: chr16:g.57918264C>T (hg19) ; chr16:g.57884360C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57884360C>T , CM000678.2:g.57884360C>T	GRCh38
NC_000016.9:g.57918264C>T , CM000678.1:g.57918264C>T	GRCh37
NC_000016.8:g.56475765C>T	NCBI36
NG_016351.1:g.91757G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.3560G>A MANE Select	ENSP00000251102.8:p.Arg1187Gln
ENST00000251102.12:c.3560G>A	ENSP00000251102.8:p.Arg1187Gln
ENST00000564448.5:c.3542G>A	ENSP00000454633.1:p.Arg1181Gln
NM_001286130.1:c.3542G>A	NP_001273059.1:p.Arg1181Gln
NM_001297.4:c.3560G>A	NP_001288.3:p.Arg1187Gln
XM_006721134.2:c.3560G>A	XP_006721197.1:p.Arg1187Gln
XM_011522870.1:c.2411G>A	XP_011521172.1:p.Arg804Gln
XM_011522870.2:c.2411G>A	XP_011521172.1:p.Arg804Gln
NM_001286130.2:c.3542G>A	NP_001273059.1:p.Arg1181Gln
NM_001297.5:c.3560G>A MANE Select	NP_001288.3:p.Arg1187Gln