Canonical Allele Identifier: CA8082590

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 320063
• ClinVar RCV Id: RCV000380180 ; RCV001519492 ; RCV003888753
• dbSNP Id: rs200242407
• ExAC: 16:57921881 C / T
• gnomAD v2: 16-57921881-C-T
• gnomAD v3: 16-57887977-C-T
• gnomAD v4: 16-57887977-C-T
• MyVariant Identifiers: chr16:g.57921881C>T (hg19) ; chr16:g.57887977C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57887977C>T , CM000678.2:g.57887977C>T	GRCh38
NC_000016.9:g.57921881C>T , CM000678.1:g.57921881C>T	GRCh37
NC_000016.8:g.56479382C>T	NCBI36
NG_016351.1:g.88140G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.3340G>A MANE Select	ENSP00000251102.8:p.Ala1114Thr
ENST00000251102.12:c.3340G>A	ENSP00000251102.8:p.Ala1114Thr
ENST00000564448.5:c.3322G>A	ENSP00000454633.1:p.Ala1108Thr
ENST00000565942.1:c.289-3520G>A
NM_001286130.1:c.3322G>A	NP_001273059.1:p.Ala1108Thr
NM_001297.4:c.3340G>A	NP_001288.3:p.Ala1114Thr
XM_006721134.2:c.3340G>A	XP_006721197.1:p.Ala1114Thr
XM_011522870.1:c.2191G>A	XP_011521172.1:p.Ala731Thr
XM_011522870.2:c.2191G>A	XP_011521172.1:p.Ala731Thr
NM_001286130.2:c.3322G>A	NP_001273059.1:p.Ala1108Thr
NM_001297.5:c.3340G>A MANE Select	NP_001288.3:p.Ala1114Thr