Canonical Allele Identifier: CA521927634
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

dbSNP Id: rs568625587
gnomAD v2: 1-35247136-C-A
gnomAD v3: 1-34781535-C-A
gnomAD v4: 1-34781535-C-A
MyVariant Identifiers: chr1:g.35247136C>A (hg19) chr1:g.34781535C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34781535C>A , CM000663.2:g.34781535C>A GRCh38
NC_000001.10:g.35247136C>A , CM000663.1:g.35247136C>A GRCh37
NC_000001.9:g.35019723C>A NCBI36
NG_008309.1:g.5347C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.-269C>A (GJB3) MANE Select ENSP00000362464.2:n.-269C>A
ENST00000373366.2:c.-269C>A (GJB3) ENSP00000362464.2:n.-269C>A
ENST00000426886.1:c.208-63126G>T (SMIM12) ENSP00000429902.1:n.208-63126G>T
NM_024009.2:c.-269C>A (GJB3) NP_076872.1:n.-269C>A
XR_947179.1:n.1001+16836G>T
XR_001737967.1:n.1023+16836G>T
NM_024009.3:c.-269C>A (GJB3) MANE Select NP_076872.1:n.-269C>A
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