Canonical Allele Identifier: CA8083082

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 437972
• ClinVar RCV Id: RCV000504924 ; RCV002524402 ; RCV003989545
• dbSNP Id: rs760373259
• ExAC: 16:57949172 C / T
• gnomAD v2: 16-57949172-C-T
• gnomAD v3: 16-57915268-C-T
• gnomAD v4: 16-57915268-C-T
• MyVariant Identifiers: chr16:g.57949172C>T (hg19) ; chr16:g.57915268C>T (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57915268C>T , CM000678.2:g.57915268C>T	GRCh38
NC_000016.9:g.57949172C>T , CM000678.1:g.57949172C>T	GRCh37
NC_000016.8:g.56506673C>T	NCBI36
NG_016351.1:g.60849G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.2285G>A MANE Select	ENSP00000251102.8:p.Arg762His
ENST00000251102.12:c.2285G>A	ENSP00000251102.8:p.Arg762His
ENST00000564448.5:c.2267G>A	ENSP00000454633.1:p.Arg756His
NM_001286130.1:c.2267G>A	NP_001273059.1:p.Arg756His
NM_001297.4:c.2285G>A	NP_001288.3:p.Arg762His
XM_006721134.2:c.2285G>A	XP_006721197.1:p.Arg762His
XM_011522870.1:c.1136G>A	XP_011521172.1:p.Arg379His
XM_011522870.2:c.1136G>A	XP_011521172.1:p.Arg379His
NM_001286130.2:c.2267G>A	NP_001273059.1:p.Arg756His
NM_001297.5:c.2285G>A MANE Select	NP_001288.3:p.Arg762His