Canonical Allele Identifier: CA622693120

Gene: CNGB1

Linked Data

• dbSNP Id: rs1567399551
• gnomAD v2: 16-57998064-GC-G
• gnomAD v4: 16-57964160-GC-G
• MyVariant Identifiers: chr16:g.57998065del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57964163del , CM000678.2:g.57964163del	GRCh38
NC_000016.9:g.57998067del , CM000678.1:g.57998067del	GRCh37
NC_000016.8:g.56555568del	NCBI36
NG_016351.1:g.11956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.259del MANE Select	ENSP00000251102.8:p.Ala87ProfsTer9
ENST00000251102.12:c.259del	ENSP00000251102.8:p.Ala87ProfsTer9
ENST00000311183.8:c.259del	ENSP00000311670.4:p.Ala87ProfsTer9
ENST00000562761.1:c.259del	ENSP00000455708.1:p.Ala87ProfsTer9
ENST00000564448.5:c.259del	ENSP00000454633.1:p.Ala87ProfsTer9
ENST00000567568.1:n.317del
NM_001135639.1:c.259del	NP_001129111.1:p.Ala87ProfsTer9
NM_001286130.1:c.259del	NP_001273059.1:p.Ala87ProfsTer9
NM_001297.4:c.259del	NP_001288.3:p.Ala87ProfsTer9
XM_006721134.2:c.259del	XP_006721197.1:p.Ala87ProfsTer9
NM_001135639.2:c.259del	NP_001129111.1:p.Ala87ProfsTer9
NM_001286130.2:c.259del	NP_001273059.1:p.Ala87ProfsTer9
NM_001297.5:c.259del MANE Select	NP_001288.3:p.Ala87ProfsTer9