Canonical Allele Identifier: CA339310738
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.35250442G>C (hg19) chr1:g.34784841G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34784841G>C , CM000663.2:g.34784841G>C GRCh38
NC_000001.10:g.35250442G>C , CM000663.1:g.35250442G>C GRCh37
NC_000001.9:g.35023029G>C NCBI36
NG_008309.1:g.8653G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.79G>C (GJB3) MANE Select ENSP00000362464.2:p.Val27Leu
ENST00000373362.3:c.79G>C (GJB3) ENSP00000362460.3:p.Val27Leu
ENST00000373366.2:c.79G>C (GJB3) ENSP00000362464.2:p.Val27Leu
ENST00000426886.1:c.208-66432C>G (SMIM12) ENSP00000429902.1:n.208-66432C>G
NM_001005752.1:c.79G>C (GJB3) NP_001005752.1:p.Val27Leu
NM_024009.2:c.79G>C (GJB3) NP_076872.1:p.Val27Leu
XR_947179.1:n.1001+13530C>G
XR_001737967.1:n.1023+13530C>G
NM_024009.3:c.79G>C (GJB3) MANE Select NP_076872.1:p.Val27Leu
NM_001005752.2:c.79G>C (GJB3) NP_001005752.1:p.Val27Leu
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