Canonical Allele Identifier: CA8083997

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 320113
• ClinVar RCV Id: RCV000264840 ; RCV001518526 ; RCV003888760 ; RCV003969906
• dbSNP Id: rs78149232
• ExAC: 16:58001052 C / T
• gnomAD v2: 16-58001052-C-T
• gnomAD v3: 16-57967148-C-T
• gnomAD v4: 16-57967148-C-T
• COSMIC: COSM3510584
• MyVariant Identifiers: chr16:g.58001052C>T (hg19) ; chr16:g.57967148C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57967148C>T , CM000678.2:g.57967148C>T	GRCh38
NC_000016.9:g.58001052C>T , CM000678.1:g.58001052C>T	GRCh37
NC_000016.8:g.56558553C>T	NCBI36
NG_016351.1:g.8969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.139G>A MANE Select	ENSP00000251102.8:p.Glu47Lys
ENST00000251102.12:c.139G>A	ENSP00000251102.8:p.Glu47Lys
ENST00000311183.8:c.139G>A	ENSP00000311670.4:p.Glu47Lys
ENST00000562761.1:c.139G>A	ENSP00000455708.1:p.Glu47Lys
ENST00000564448.5:c.139G>A	ENSP00000454633.1:p.Glu47Lys
ENST00000567568.1:n.197G>A
NM_001135639.1:c.139G>A	NP_001129111.1:p.Glu47Lys
NM_001286130.1:c.139G>A	NP_001273059.1:p.Glu47Lys
NM_001297.4:c.139G>A	NP_001288.3:p.Glu47Lys
XM_006721134.2:c.139G>A	XP_006721197.1:p.Glu47Lys
NM_001135639.2:c.139G>A	NP_001129111.1:p.Glu47Lys
NM_001286130.2:c.139G>A	NP_001273059.1:p.Glu47Lys
NM_001297.5:c.139G>A MANE Select	NP_001288.3:p.Glu47Lys