Canonical Allele Identifier: CA8082767

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 369953
• ClinVar RCV Id: RCV000408898 ; RCV000513315 ; RCV001199469
• dbSNP Id: rs749199721
• ExAC: 16:57935346 C / T
• gnomAD v2: 16-57935346-C-T
• gnomAD v3: 16-57901442-C-T
• gnomAD v4: 16-57901442-C-T
• MyVariant Identifiers: chr16:g.57935346C>T (hg19) ; chr16:g.57901442C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57901442C>T , CM000678.2:g.57901442C>T	GRCh38
NC_000016.9:g.57935346C>T , CM000678.1:g.57935346C>T	GRCh37
NC_000016.8:g.56492847C>T	NCBI36
NG_016351.1:g.74675G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.2893-7G>A MANE Select	ENSP00000251102.8:n.2893-7G>A
ENST00000251102.12:c.2893-7G>A	ENSP00000251102.8:n.2893-7G>A
ENST00000564448.5:c.2875-7G>A	ENSP00000454633.1:n.2875-7G>A
ENST00000569643.1:n.550-7G>A
NM_001286130.1:c.2875-7G>A	NP_001273059.1:n.2875-7G>A
NM_001297.4:c.2893-7G>A	NP_001288.3:n.2893-7G>A
XM_006721134.2:c.2893-7G>A	XP_006721197.1:n.2893-7G>A
XM_011522870.1:c.1744-7G>A	XP_011521172.1:n.1744-7G>A
XM_011522870.2:c.1744-7G>A	XP_011521172.1:n.1744-7G>A
NM_001286130.2:c.2875-7G>A	NP_001273059.1:n.2875-7G>A
NM_001297.5:c.2893-7G>A MANE Select	NP_001288.3:n.2893-7G>A