Canonical Allele Identifier: CA8083004

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 320078
• ClinVar RCV Id: RCV000288196 ; RCV001458432
• dbSNP Id: rs200323140
• ExAC: 16:57945697 G / T
• gnomAD v2: 16-57945697-G-T
• gnomAD v3: 16-57911793-G-T
• gnomAD v4: 16-57911793-G-T
• MyVariant Identifiers: chr16:g.57945697G>T (hg19) ; chr16:g.57911793G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57911793G>T , CM000678.2:g.57911793G>T	GRCh38
NC_000016.9:g.57945697G>T , CM000678.1:g.57945697G>T	GRCh37
NC_000016.8:g.56503198G>T	NCBI36
NG_016351.1:g.64324C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.2452C>A MANE Select	ENSP00000251102.8:p.Leu818Ile
ENST00000251102.12:c.2452C>A	ENSP00000251102.8:p.Leu818Ile
ENST00000564448.5:c.2434C>A	ENSP00000454633.1:p.Leu812Ile
ENST00000569643.1:n.109C>A
NM_001286130.1:c.2434C>A	NP_001273059.1:p.Leu812Ile
NM_001297.4:c.2452C>A	NP_001288.3:p.Leu818Ile
XM_006721134.2:c.2452C>A	XP_006721197.1:p.Leu818Ile
XM_011522870.1:c.1303C>A	XP_011521172.1:p.Leu435Ile
XM_011522870.2:c.1303C>A	XP_011521172.1:p.Leu435Ile
NM_001286130.2:c.2434C>A	NP_001273059.1:p.Leu812Ile
NM_001297.5:c.2452C>A MANE Select	NP_001288.3:p.Leu818Ile