Canonical Allele Identifier: CA358282
Gene: CNGB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 209979
dbSNP Id: rs201553871

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