Canonical Allele Identifier: CA8083930

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 3028407
• ClinVar RCV Id: RCV003889777
• dbSNP Id: rs8055343
• ExAC: 16:57998067 C / G
• gnomAD v2: 16-57998067-C-G
• gnomAD v3: 16-57964163-C-G
• gnomAD v4: 16-57964163-C-G
• MyVariant Identifiers: chr16:g.57998067C>G (hg19) ; chr16:g.57964163C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57964163C>G , CM000678.2:g.57964163C>G	GRCh38
NC_000016.9:g.57998067C>G , CM000678.1:g.57998067C>G	GRCh37
NC_000016.8:g.56555568C>G	NCBI36
NG_016351.1:g.11954G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.257G>C MANE Select	ENSP00000251102.8:p.Arg86Pro
ENST00000251102.12:c.257G>C	ENSP00000251102.8:p.Arg86Pro
ENST00000311183.8:c.257G>C	ENSP00000311670.4:p.Arg86Pro
ENST00000562761.1:c.257G>C	ENSP00000455708.1:p.Arg86Pro
ENST00000564448.5:c.257G>C	ENSP00000454633.1:p.Arg86Pro
ENST00000567568.1:n.315G>C
NM_001135639.1:c.257G>C	NP_001129111.1:p.Arg86Pro
NM_001286130.1:c.257G>C	NP_001273059.1:p.Arg86Pro
NM_001297.4:c.257G>C	NP_001288.3:p.Arg86Pro
XM_006721134.2:c.257G>C	XP_006721197.1:p.Arg86Pro
NM_001135639.2:c.257G>C	NP_001129111.1:p.Arg86Pro
NM_001286130.2:c.257G>C	NP_001273059.1:p.Arg86Pro
NM_001297.5:c.257G>C MANE Select	NP_001288.3:p.Arg86Pro