Canonical Allele Identifier: CA735258136
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

dbSNP Id: rs1172718096
gnomAD v3: 1-34781744-G-C
gnomAD v4: 1-34781744-G-C
MyVariant Identifiers: chr1:g.35247345G>C (hg19) chr1:g.34781744G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34781744G>C , CM000663.2:g.34781744G>C GRCh38
NC_000001.10:g.35247345G>C , CM000663.1:g.35247345G>C GRCh37
NC_000001.9:g.35019932G>C NCBI36
NG_008309.1:g.5556G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.-60G>C (GJB3) MANE Select ENSP00000362464.2:n.-60G>C
ENST00000373366.2:c.-60G>C (GJB3) ENSP00000362464.2:n.-60G>C
ENST00000426886.1:c.208-63335C>G (SMIM12) ENSP00000429902.1:n.208-63335C>G
NM_024009.2:c.-60G>C (GJB3) NP_076872.1:n.-60G>C
XR_947179.1:n.1001+16627C>G
XR_001737967.1:n.1023+16627C>G
NM_024009.3:c.-60G>C (GJB3) MANE Select NP_076872.1:n.-60G>C
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