Canonical Allele Identifier: CA1139656047
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

ClinVar Variation Id: 875773
ClinVar RCV Id: RCV001099925
dbSNP Id: rs1640012751
gnomAD v4: 1-34781734-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34781734C>T , CM000663.2:g.34781734C>T GRCh38
NC_000001.10:g.35247335C>T , CM000663.1:g.35247335C>T GRCh37
NC_000001.9:g.35019922C>T NCBI36
NG_008309.1:g.5546C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.-70C>T (GJB3) MANE Select ENSP00000362464.2:n.-70C>T
ENST00000373366.2:c.-70C>T (GJB3) ENSP00000362464.2:n.-70C>T
ENST00000426886.1:c.208-63325G>A (SMIM12) ENSP00000429902.1:n.208-63325G>A
NM_024009.2:c.-70C>T (GJB3) NP_076872.1:n.-70C>T
XR_947179.1:n.1001+16637G>A
XR_001737967.1:n.1023+16637G>A
NM_024009.3:c.-70C>T (GJB3) MANE Select NP_076872.1:n.-70C>T
Search 100 bp 5'
Search 100 bp 3'