Canonical Allele Identifier: CA242185

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 195667
• ClinVar RCV Id: RCV000291964 ; RCV000724483 ; RCV001074215
• dbSNP Id: rs192843629
• ExAC: 16:57950041 G / A
• gnomAD v2: 16-57950041-G-A
• gnomAD v3: 16-57916137-G-A
• gnomAD v4: 16-57916137-G-A
• MyVariant Identifiers: chr16:g.57950041G>A (hg19) ; chr16:g.57916137G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57916137G>A , CM000678.2:g.57916137G>A	GRCh38
NC_000016.9:g.57950041G>A , CM000678.1:g.57950041G>A	GRCh37
NC_000016.8:g.56507542G>A	NCBI36
NG_016351.1:g.59980C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.2209C>T MANE Select	ENSP00000251102.8:p.Arg737Cys
ENST00000251102.12:c.2209C>T	ENSP00000251102.8:p.Arg737Cys
ENST00000564448.5:c.2191C>T	ENSP00000454633.1:p.Arg731Cys
NM_001286130.1:c.2191C>T	NP_001273059.1:p.Arg731Cys
NM_001297.4:c.2209C>T	NP_001288.3:p.Arg737Cys
XM_006721134.2:c.2209C>T	XP_006721197.1:p.Arg737Cys
XM_011522870.1:c.1060C>T	XP_011521172.1:p.Arg354Cys
XM_011522870.2:c.1060C>T	XP_011521172.1:p.Arg354Cys
NM_001286130.2:c.2191C>T	NP_001273059.1:p.Arg731Cys
NM_001297.5:c.2209C>T MANE Select	NP_001288.3:p.Arg737Cys