Canonical Allele Identifier: CA8082466
Gene: CNGB1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.57884203C>A
GRCh37 chr16:g.57918107C>A
gnomAD v2:
16:57918107 C / A
gnomAD v3:
16:57884203 C / A
gnomAD v4:
chr16-57884203-C-A
Joint Max Group AF 0.00144059 (AFR)
Genomes Max Group AF 0.00132265 (AFR)
Exomes Max Group AF 0.00137549 (AFR)
ClinVar RCV:
RCV000313088
RCV001520986
ClinVar Variation:
320054
dbSNP:
202083169
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.57884203C>A , CM000678.2:g.57884203C>A GRCh38
NC_000016.9:g.57918107C>A , CM000678.1:g.57918107C>A GRCh37
NC_000016.8:g.56475608C>A NCBI36
NG_016351.1:g.91914G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251102.13:c.3717G>T MANE Select ENSP00000251102.8:p.Ser1239=
ENST00000251102.12:c.3717G>T ENSP00000251102.8:p.Ser1239=
ENST00000564448.5:c.3699G>T ENSP00000454633.1:p.Ser1233=
NM_001286130.1:c.3699G>T NP_001273059.1:p.Ser1233=
NM_001297.4:c.3717G>T NP_001288.3:p.Ser1239=
XM_006721134.2:c.3717G>T XP_006721197.1:p.Ser1239=
XM_011522870.1:c.2568G>T XP_011521172.1:p.Ser856=
XM_011522870.2:c.2568G>T XP_011521172.1:p.Ser856=
NM_001286130.2:c.3699G>T NP_001273059.1:p.Ser1233=
NM_001297.5:c.3717G>T MANE Select NP_001288.3:p.Ser1239=
Search 100 bp 5'
Search 100 bp 3'