Canonical Allele Identifier: CA8083178

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 320080
• ClinVar RCV Id: RCV000405494 ; RCV001000732 ; RCV001451609
• dbSNP Id: rs181974243
• ExAC: 16:57951240 G / A
• gnomAD v2: 16-57951240-G-A
• gnomAD v3: 16-57917336-G-A
• gnomAD v4: 16-57917336-G-A
• MyVariant Identifiers: chr16:g.57951240G>A (hg19) ; chr16:g.57917336G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57917336G>A , CM000678.2:g.57917336G>A	GRCh38
NC_000016.9:g.57951240G>A , CM000678.1:g.57951240G>A	GRCh37
NC_000016.8:g.56508741G>A	NCBI36
NG_016351.1:g.58781C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.2098C>T MANE Select	ENSP00000251102.8:p.Leu700Phe
ENST00000251102.12:c.2098C>T	ENSP00000251102.8:p.Leu700Phe
ENST00000564448.5:c.2080C>T	ENSP00000454633.1:p.Leu694Phe
NM_001286130.1:c.2080C>T	NP_001273059.1:p.Leu694Phe
NM_001297.4:c.2098C>T	NP_001288.3:p.Leu700Phe
XM_006721134.2:c.2098C>T	XP_006721197.1:p.Leu700Phe
XM_011522870.1:c.949C>T	XP_011521172.1:p.Leu317Phe
XM_011522870.2:c.949C>T	XP_011521172.1:p.Leu317Phe
NM_001286130.2:c.2080C>T	NP_001273059.1:p.Leu694Phe
NM_001297.5:c.2098C>T MANE Select	NP_001288.3:p.Leu700Phe