Canonical Allele Identifier: CA754894
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.34785465C>T
GRCh37 chr1:g.35251066C>T
gnomAD v2:
1:35251066 C / T
gnomAD v3:
1:34785465 C / T
gnomAD v4:
chr1-34785465-C-T
Joint Max Group AF 0.00002907 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002914 (NFE)
ClinVar RCV:
RCV001844224
RCV002531414
ClinVar Variation:
561271
dbSNP:
144964568
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34785465C>T , CM000663.2:g.34785465C>T GRCh38
NC_000001.10:g.35251066C>T , CM000663.1:g.35251066C>T GRCh37
NC_000001.9:g.35023653C>T NCBI36
NG_008309.1:g.9277C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.703C>T (GJB3) MANE Select ENSP00000362464.2:p.Arg235Ter
ENST00000373362.3:c.703C>T (GJB3) ENSP00000362460.3:p.Arg235Ter
ENST00000373366.2:c.703C>T (GJB3) ENSP00000362464.2:p.Arg235Ter
ENST00000426886.1:c.208-67056G>A (SMIM12) ENSP00000429902.1:n.208-67056G>A
NM_001005752.1:c.703C>T (GJB3) NP_001005752.1:p.Arg235Ter
NM_024009.2:c.703C>T (GJB3) NP_076872.1:p.Arg235Ter
XR_947179.1:n.1001+12906G>A
XR_001737967.1:n.1023+12906G>A
NM_024009.3:c.703C>T (GJB3) MANE Select NP_076872.1:p.Arg235Ter
NM_001005752.2:c.703C>T (GJB3) NP_001005752.1:p.Arg235Ter
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