Canonical Allele Identifier: CA10611034
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

ClinVar Variation Id: 297188
ClinVar RCV Id: RCV000294622
dbSNP Id: rs1057515515
gnomAD v4: 1-34781711-C-T
MyVariant Identifiers: chr1:g.35247312C>T (hg19) chr1:g.34781711C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34781711C>T , CM000663.2:g.34781711C>T GRCh38
NC_000001.10:g.35247312C>T , CM000663.1:g.35247312C>T GRCh37
NC_000001.9:g.35019899C>T NCBI36
NG_008309.1:g.5523C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.-93C>T (GJB3) MANE Select ENSP00000362464.2:n.-93C>T
ENST00000373366.2:c.-93C>T (GJB3) ENSP00000362464.2:n.-93C>T
ENST00000426886.1:c.208-63302G>A (SMIM12) ENSP00000429902.1:n.208-63302G>A
NM_024009.2:c.-93C>T (GJB3) NP_076872.1:n.-93C>T
XR_947179.1:n.1001+16660G>A
XR_001737967.1:n.1023+16660G>A
NM_024009.3:c.-93C>T (GJB3) MANE Select NP_076872.1:n.-93C>T
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