Canonical Allele Identifier: CA8083183
Gene: CNGB1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.57917343T>C
GRCh37 chr16:g.57951247T>C
gnomAD v2:
16:57951247 T / C
gnomAD v3:
16:57917343 T / C
gnomAD v4:
chr16-57917343-T-C
Joint Max Group AF 0.0000122 (NFE)
Genomes Max Group AF 0.00000799 (AFR)
Exomes Max Group AF 0.00001213 (NFE)
ClinVar RCV:
RCV000304973
RCV002521059
ClinVar Variation:
320081
dbSNP:
767102177
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.57917343T>C , CM000678.2:g.57917343T>C GRCh38
NC_000016.9:g.57951247T>C , CM000678.1:g.57951247T>C GRCh37
NC_000016.8:g.56508748T>C NCBI36
NG_016351.1:g.58774A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251102.13:c.2091A>G MANE Select ENSP00000251102.8:p.Leu697=
ENST00000251102.12:c.2091A>G ENSP00000251102.8:p.Leu697=
ENST00000564448.5:c.2073A>G ENSP00000454633.1:p.Leu691=
NM_001286130.1:c.2073A>G NP_001273059.1:p.Leu691=
NM_001297.4:c.2091A>G NP_001288.3:p.Leu697=
XM_006721134.2:c.2091A>G XP_006721197.1:p.Leu697=
XM_011522870.1:c.942A>G XP_011521172.1:p.Leu314=
XM_011522870.2:c.942A>G XP_011521172.1:p.Leu314=
NM_001286130.2:c.2073A>G NP_001273059.1:p.Leu691=
NM_001297.5:c.2091A>G MANE Select NP_001288.3:p.Leu697=
Search 100 bp 5'
Search 100 bp 3'