Canonical Allele Identifier: CA8083274
Gene: CNGB1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.57919268T>C
GRCh37 chr16:g.57953172T>C
gnomAD v2:
16:57953172 T / C
gnomAD v3:
16:57919268 T / C
gnomAD v4:
chr16-57919268-T-C
Joint Max Group AF 0.00009691 (NFE)
Genomes Max Group AF 0.00003763 (NFE)
Exomes Max Group AF 0.00009754 (NFE)
ClinVar RCV:
RCV000276667
RCV002061205
ClinVar Variation:
320088
dbSNP:
751916833
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.57919268T>C , CM000678.2:g.57919268T>C GRCh38
NC_000016.9:g.57953172T>C , CM000678.1:g.57953172T>C GRCh37
NC_000016.8:g.56510673T>C NCBI36
NG_016351.1:g.56849A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251102.13:c.1802-14A>G MANE Select ENSP00000251102.8:n.1802-14A>G
ENST00000251102.12:c.1802-14A>G ENSP00000251102.8:n.1802-14A>G
ENST00000564448.5:c.1784-14A>G ENSP00000454633.1:n.1784-14A>G
NM_001286130.1:c.1784-14A>G NP_001273059.1:n.1784-14A>G
NM_001297.4:c.1802-14A>G NP_001288.3:n.1802-14A>G
XM_006721134.2:c.1802-14A>G XP_006721197.1:n.1802-14A>G
XM_011522870.1:c.653-14A>G XP_011521172.1:n.653-14A>G
XR_933629.1:n.85+1726T>C
XM_011522870.2:c.653-14A>G XP_011521172.1:n.653-14A>G
NM_001286130.2:c.1784-14A>G NP_001273059.1:n.1784-14A>G
NM_001297.5:c.1802-14A>G MANE Select NP_001288.3:n.1802-14A>G
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