Canonical Allele Identifier: CA521927632
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

dbSNP Id: rs1320464781
gnomAD v2: 1-35247134-T-C
gnomAD v3: 1-34781533-T-C
gnomAD v4: 1-34781533-T-C
MyVariant Identifiers: chr1:g.35247134T>C (hg19) chr1:g.34781533T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34781533T>C , CM000663.2:g.34781533T>C GRCh38
NC_000001.10:g.35247134T>C , CM000663.1:g.35247134T>C GRCh37
NC_000001.9:g.35019721T>C NCBI36
NG_008309.1:g.5345T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.-271T>C (GJB3) MANE Select ENSP00000362464.2:n.-271T>C
ENST00000373366.2:c.-271T>C (GJB3) ENSP00000362464.2:n.-271T>C
ENST00000426886.1:c.208-63124A>G (SMIM12) ENSP00000429902.1:n.208-63124A>G
NM_024009.2:c.-271T>C (GJB3) NP_076872.1:n.-271T>C
XR_947179.1:n.1001+16838A>G
XR_001737967.1:n.1023+16838A>G
NM_024009.3:c.-271T>C (GJB3) MANE Select NP_076872.1:n.-271T>C
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