Canonical Allele Identifier: CA202502
Gene: CNGB1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.57897504G>A
GRCh37 chr16:g.57931408G>A
gnomAD v2:
16:57931408 G / A
gnomAD v3:
16:57897504 G / A
gnomAD v4:
chr16-57897504-G-A
Joint Max Group AF 0.00442632 (SAS)
Genomes Max Group AF 0.00325391 (SAS)
Exomes Max Group AF 0.00441818 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.57897504G>A , CM000678.2:g.57897504G>A GRCh38
NC_000016.9:g.57931408G>A , CM000678.1:g.57931408G>A GRCh37
NC_000016.8:g.56488909G>A NCBI36
NG_016351.1:g.78613C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251102.13:c.3135C>T MANE Select ENSP00000251102.8:p.Asn1045=
ENST00000251102.12:c.3135C>T ENSP00000251102.8:p.Asn1045=
ENST00000564448.5:c.3117C>T ENSP00000454633.1:p.Asn1039=
ENST00000565942.1:c.181C>T
NM_001286130.1:c.3117C>T NP_001273059.1:p.Asn1039=
NM_001297.4:c.3135C>T NP_001288.3:p.Asn1045=
XM_006721134.2:c.3135C>T XP_006721197.1:p.Asn1045=
XM_011522870.1:c.1986C>T XP_011521172.1:p.Asn662=
XM_011522870.2:c.1986C>T XP_011521172.1:p.Asn662=
NM_001286130.2:c.3117C>T NP_001273059.1:p.Asn1039=
NM_001297.5:c.3135C>T MANE Select NP_001288.3:p.Asn1045=
Search 100 bp 5'
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