Canonical Allele Identifier: CA396080112

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 1026509
• ClinVar RCV Id: RCV001326969
• dbSNP Id: rs1290411898
• gnomAD v2: 16-57998070-A-C
• gnomAD v4: 16-57964166-A-C
• MyVariant Identifiers: chr16:g.57998070A>C (hg19) ; chr16:g.57964166A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57964166A>C , CM000678.2:g.57964166A>C	GRCh38
NC_000016.9:g.57998070A>C , CM000678.1:g.57998070A>C	GRCh37
NC_000016.8:g.56555571A>C	NCBI36
NG_016351.1:g.11951T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.254T>G MANE Select	ENSP00000251102.8:p.Leu85Arg
ENST00000251102.12:c.254T>G	ENSP00000251102.8:p.Leu85Arg
ENST00000311183.8:c.254T>G	ENSP00000311670.4:p.Leu85Arg
ENST00000562761.1:c.254T>G	ENSP00000455708.1:p.Leu85Arg
ENST00000564448.5:c.254T>G	ENSP00000454633.1:p.Leu85Arg
ENST00000567568.1:n.312T>G
NM_001135639.1:c.254T>G	NP_001129111.1:p.Leu85Arg
NM_001286130.1:c.254T>G	NP_001273059.1:p.Leu85Arg
NM_001297.4:c.254T>G	NP_001288.3:p.Leu85Arg
XM_006721134.2:c.254T>G	XP_006721197.1:p.Leu85Arg
NM_001135639.2:c.254T>G	NP_001129111.1:p.Leu85Arg
NM_001286130.2:c.254T>G	NP_001273059.1:p.Leu85Arg
NM_001297.5:c.254T>G MANE Select	NP_001288.3:p.Leu85Arg