Canonical Allele Identifier: CA212856
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

ClinVar Variation Id: 6490
ClinVar RCV Id: RCV000006863 RCV000345579 RCV002243625 RCV002468963
dbSNP Id: rs786200895
ExAC: 1:35250556 TACG / T
gnomAD v2: 1-35250556-TACG-T
gnomAD v3: 1-34784955-TACG-T
gnomAD v4: 1-34784955-TACG-T
MyVariant Identifiers: chr1:g.35250559_35250561del (hg19) chr1:g.35250557_35250559del (hg19) chr1:g.34784958_34784960del (hg38) chr1:g.34784957_34784959del (hg38) chr1:g.34784956_34784958del (hg38)
PubMed: PMID:11309368
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34784958_34784960del , CM000663.2:g.34784958_34784960del GRCh38
NC_000001.10:g.35250559_35250561del , CM000663.1:g.35250559_35250561del GRCh37
NC_000001.9:g.35023146_35023148del NCBI36
NG_008309.1:g.8770_8772del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.196_198del (GJB3) MANE Select ENSP00000362464.2:p.Asp66del
ENST00000373362.3:c.196_198del (GJB3) ENSP00000362460.3:p.Asp66del
ENST00000373366.2:c.196_198del (GJB3) ENSP00000362464.2:p.Asp66del
ENST00000426886.1:c.208-66549_208-66547del (SMIM12) ENSP00000429902.1:n.208-66549_208-66547del
NM_001005752.1:c.196_198del (GJB3) NP_001005752.1:p.Asp66del
NM_024009.2:c.196_198del (GJB3) NP_076872.1:p.Asp66del
XR_947179.1:n.1001+13413_1001+13415del
XR_001737967.1:n.1023+13413_1023+13415del
NM_024009.3:c.196_198del (GJB3) MANE Select NP_076872.1:p.Asp66del
NM_001005752.2:c.196_198del (GJB3) NP_001005752.1:p.Asp66del
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