Canonical Allele Identifier: CA735258083
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

dbSNP Id: rs1404329669
gnomAD v3: 1-34781632-G-T
gnomAD v4: 1-34781632-G-T
MyVariant Identifiers: chr1:g.35247233G>T (hg19) chr1:g.34781632G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34781632G>T , CM000663.2:g.34781632G>T GRCh38
NC_000001.10:g.35247233G>T , CM000663.1:g.35247233G>T GRCh37
NC_000001.9:g.35019820G>T NCBI36
NG_008309.1:g.5444G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.-172G>T (GJB3) MANE Select ENSP00000362464.2:n.-172G>T
ENST00000373366.2:c.-172G>T (GJB3) ENSP00000362464.2:n.-172G>T
ENST00000426886.1:c.208-63223C>A (SMIM12) ENSP00000429902.1:n.208-63223C>A
NM_024009.2:c.-172G>T (GJB3) NP_076872.1:n.-172G>T
XR_947179.1:n.1001+16739C>A
XR_001737967.1:n.1023+16739C>A
NM_024009.3:c.-172G>T (GJB3) MANE Select NP_076872.1:n.-172G>T
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