Canonical Allele Identifier: CA118311
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.34785259A>G
GRCh37 chr1:g.35250860A>G
Revel Score:
ENST00000373366 (MANE Select) 0.347
ENST00000373362 0.347
ENST00000543647 0.347
gnomAD v2:
1:35250860 A / G
gnomAD v4:
chr1-34785259-A-G
Joint Max Group AF 0.00001062 (AFR)
Exomes Max Group AF 0.00002375 (AFR)
ClinVar RCV:
RCV000006865
ClinVar Variation:
6492
dbSNP:
121908851
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34785259A>G , CM000663.2:g.34785259A>G GRCh38
NC_000001.10:g.35250860A>G , CM000663.1:g.35250860A>G GRCh37
NC_000001.9:g.35023447A>G NCBI36
NG_008309.1:g.9071A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.497A>G (GJB3) MANE Select ENSP00000362464.2:p.Asn166Ser
ENST00000373362.3:c.497A>G (GJB3) ENSP00000362460.3:p.Asn166Ser
ENST00000373366.2:c.497A>G (GJB3) ENSP00000362464.2:p.Asn166Ser
ENST00000426886.1:c.208-66850T>C (SMIM12) ENSP00000429902.1:n.208-66850T>C
NM_001005752.1:c.497A>G (GJB3) NP_001005752.1:p.Asn166Ser
NM_024009.2:c.497A>G (GJB3) NP_076872.1:p.Asn166Ser
XR_947179.1:n.1001+13112T>C
XR_001737967.1:n.1023+13112T>C
NM_024009.3:c.497A>G (GJB3) MANE Select NP_076872.1:p.Asn166Ser
NM_001005752.2:c.497A>G (GJB3) NP_001005752.1:p.Asn166Ser
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