Canonical Allele Identifier: CA242532
Gene: CNGB1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.57911884G>A
GRCh37 chr16:g.57945788G>A
gnomAD v2:
16:57945788 G / A
gnomAD v3:
16:57911884 G / A
gnomAD v4:
chr16-57911884-G-A
Joint Max Group AF 0.0006882 (NFE)
Genomes Max Group AF 0.00067701 (NFE)
Exomes Max Group AF 0.00067994 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.57911884G>A , CM000678.2:g.57911884G>A GRCh38
NC_000016.9:g.57945788G>A , CM000678.1:g.57945788G>A GRCh37
NC_000016.8:g.56503289G>A NCBI36
NG_016351.1:g.64233C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251102.13:c.2370-9C>T MANE Select ENSP00000251102.8:n.2370-9C>T
ENST00000251102.12:c.2370-9C>T ENSP00000251102.8:n.2370-9C>T
ENST00000564448.5:c.2352-9C>T ENSP00000454633.1:n.2352-9C>T
ENST00000569643.1:n.18C>T
NM_001286130.1:c.2352-9C>T NP_001273059.1:n.2352-9C>T
NM_001297.4:c.2370-9C>T NP_001288.3:n.2370-9C>T
XM_006721134.2:c.2370-9C>T XP_006721197.1:n.2370-9C>T
XM_011522870.1:c.1221-9C>T XP_011521172.1:n.1221-9C>T
XM_011522870.2:c.1221-9C>T XP_011521172.1:n.1221-9C>T
NM_001286130.2:c.2352-9C>T NP_001273059.1:n.2352-9C>T
NM_001297.5:c.2370-9C>T MANE Select NP_001288.3:n.2370-9C>T
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