Canonical Allele Identifier: CA20568494
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

dbSNP Id: rs766364402
MyVariant Identifiers: chr1:g.35247200C>G (hg19) chr1:g.34781599C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34781599C>G , CM000663.2:g.34781599C>G GRCh38
NC_000001.10:g.35247200C>G , CM000663.1:g.35247200C>G GRCh37
NC_000001.9:g.35019787C>G NCBI36
NG_008309.1:g.5411C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.-205C>G (GJB3) MANE Select ENSP00000362464.2:n.-205C>G
ENST00000373366.2:c.-205C>G (GJB3) ENSP00000362464.2:n.-205C>G
ENST00000426886.1:c.208-63190G>C (SMIM12) ENSP00000429902.1:n.208-63190G>C
NM_024009.2:c.-205C>G (GJB3) NP_076872.1:n.-205C>G
XR_947179.1:n.1001+16772G>C
XR_001737967.1:n.1023+16772G>C
NM_024009.3:c.-205C>G (GJB3) MANE Select NP_076872.1:n.-205C>G
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