Canonical Allele Identifier: CA8082588
Gene: CNGB1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.57887951C>T
GRCh37 chr16:g.57921855C>T
gnomAD v2:
16:57921855 C / T
gnomAD v3:
16:57887951 C / T
gnomAD v4:
chr16-57887951-C-T
Joint Max Group AF 0.00001107 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00000852 (NFE)
ClinVar RCV:
RCV000323178
RCV001511237
ClinVar Variation:
320062
dbSNP:
751822516
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.57887951C>T , CM000678.2:g.57887951C>T GRCh38
NC_000016.9:g.57921855C>T , CM000678.1:g.57921855C>T GRCh37
NC_000016.8:g.56479356C>T NCBI36
NG_016351.1:g.88166G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251102.13:c.3366G>A MANE Select ENSP00000251102.8:p.Lys1122=
ENST00000251102.12:c.3366G>A ENSP00000251102.8:p.Lys1122=
ENST00000564448.5:c.3348G>A ENSP00000454633.1:p.Lys1116=
ENST00000565942.1:c.289-3494G>A
NM_001286130.1:c.3348G>A NP_001273059.1:p.Lys1116=
NM_001297.4:c.3366G>A NP_001288.3:p.Lys1122=
XM_006721134.2:c.3366G>A XP_006721197.1:p.Lys1122=
XM_011522870.1:c.2217G>A XP_011521172.1:p.Lys739=
XM_011522870.2:c.2217G>A XP_011521172.1:p.Lys739=
NM_001286130.2:c.3348G>A NP_001273059.1:p.Lys1116=
NM_001297.5:c.3366G>A MANE Select NP_001288.3:p.Lys1122=
Search 100 bp 5'
Search 100 bp 3'