Canonical Allele Identifier: CA358282

Gene: CNGB1

Linked Data

• ClinVar Variation Id: 209979
• ClinVar RCV Id: RCV000191921 ; RCV000490531 ; RCV001119868 ; RCV001489289
• dbSNP Id: rs201553871
• ExAC: 16:57957231 G / C
• gnomAD v2: 16-57957231-G-C
• gnomAD v3: 16-57923327-G-C
• gnomAD v4: 16-57923327-G-C
• COSMIC: COSM1302071
• MyVariant Identifiers: chr16:g.57957231G>C (hg19) ; chr16:g.57923327G>C (hg38)
• PubMed: PMID:23661369

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57923327G>C , CM000678.2:g.57923327G>C	GRCh38
NC_000016.9:g.57957231G>C , CM000678.1:g.57957231G>C	GRCh37
NC_000016.8:g.56514732G>C	NCBI36
NG_016351.1:g.52790C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.1589C>G MANE Select	ENSP00000251102.8:p.Pro530Arg
ENST00000251102.12:c.1589C>G	ENSP00000251102.8:p.Pro530Arg
ENST00000564448.5:c.1571C>G	ENSP00000454633.1:p.Pro524Arg
ENST00000564450.1:n.174C>G
NM_001286130.1:c.1571C>G	NP_001273059.1:p.Pro524Arg
NM_001297.4:c.1589C>G	NP_001288.3:p.Pro530Arg
XM_006721134.2:c.1589C>G	XP_006721197.1:p.Pro530Arg
XM_011522870.1:c.440C>G	XP_011521172.1:p.Pro147Arg
XM_011522870.2:c.440C>G	XP_011521172.1:p.Pro147Arg
NM_001286130.2:c.1571C>G	NP_001273059.1:p.Pro524Arg
NM_001297.5:c.1589C>G MANE Select	NP_001288.3:p.Pro530Arg