Canonical Allele Identifier: CA8083661
Gene: CNGB1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.57957381C>A
GRCh37 chr16:g.57991285C>A
gnomAD v2:
16:57991285 C / A
gnomAD v3:
16:57957381 C / A
gnomAD v4:
chr16-57957381-C-A
Joint Max Group AF 0.00034248 (NFE)
Genomes Max Group AF 0.00026695 (NFE)
Exomes Max Group AF 0.00034097 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.57957381C>A , CM000678.2:g.57957381C>A GRCh38
NC_000016.9:g.57991285C>A , CM000678.1:g.57991285C>A GRCh37
NC_000016.8:g.56548786C>A NCBI36
NG_016351.1:g.18736G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251102.13:c.838-4G>T MANE Select ENSP00000251102.8:n.838-4G>T
ENST00000251102.12:c.838-4G>T ENSP00000251102.8:n.838-4G>T
ENST00000311183.8:c.838-4G>T ENSP00000311670.4:n.838-4G>T
ENST00000564448.5:c.820-4G>T ENSP00000454633.1:n.820-4G>T
NM_001135639.1:c.838-4G>T NP_001129111.1:n.838-4G>T
NM_001286130.1:c.820-4G>T NP_001273059.1:n.820-4G>T
NM_001297.4:c.838-4G>T NP_001288.3:n.838-4G>T
XM_006721134.2:c.838-4G>T XP_006721197.1:n.838-4G>T
NM_001135639.2:c.838-4G>T NP_001129111.1:n.838-4G>T
NM_001286130.2:c.820-4G>T NP_001273059.1:n.820-4G>T
NM_001297.5:c.838-4G>T MANE Select NP_001288.3:n.838-4G>T
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