Canonical Allele Identifier: CA8083082
Gene: CNGB1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.57915268C>T
GRCh37 chr16:g.57949172C>T
Revel Score:
ENST00000251102 (MANE Select) 0.957
gnomAD v2:
16:57949172 C / T
gnomAD v3:
16:57915268 C / T
gnomAD v4:
chr16-57915268-C-T
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.57915268C>T , CM000678.2:g.57915268C>T GRCh38
NC_000016.9:g.57949172C>T , CM000678.1:g.57949172C>T GRCh37
NC_000016.8:g.56506673C>T NCBI36
NG_016351.1:g.60849G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251102.13:c.2285G>A MANE Select ENSP00000251102.8:p.Arg762His
ENST00000251102.12:c.2285G>A ENSP00000251102.8:p.Arg762His
ENST00000564448.5:c.2267G>A ENSP00000454633.1:p.Arg756His
NM_001286130.1:c.2267G>A NP_001273059.1:p.Arg756His
NM_001297.4:c.2285G>A NP_001288.3:p.Arg762His
XM_006721134.2:c.2285G>A XP_006721197.1:p.Arg762His
XM_011522870.1:c.1136G>A XP_011521172.1:p.Arg379His
XM_011522870.2:c.1136G>A XP_011521172.1:p.Arg379His
NM_001286130.2:c.2267G>A NP_001273059.1:p.Arg756His
NM_001297.5:c.2285G>A MANE Select NP_001288.3:p.Arg762His
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