Canonical Allele Identifier: CA521927636
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

dbSNP Id: rs1440320629
gnomAD v2: 1-35247150-C-T
gnomAD v3: 1-34781549-C-T
gnomAD v4: 1-34781549-C-T
MyVariant Identifiers: chr1:g.35247150C>T (hg19) chr1:g.34781549C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34781549C>T , CM000663.2:g.34781549C>T GRCh38
NC_000001.10:g.35247150C>T , CM000663.1:g.35247150C>T GRCh37
NC_000001.9:g.35019737C>T NCBI36
NG_008309.1:g.5361C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.-255C>T (GJB3) MANE Select ENSP00000362464.2:n.-255C>T
ENST00000373366.2:c.-255C>T (GJB3) ENSP00000362464.2:n.-255C>T
ENST00000426886.1:c.208-63140G>A (SMIM12) ENSP00000429902.1:n.208-63140G>A
NM_024009.2:c.-255C>T (GJB3) NP_076872.1:n.-255C>T
XR_947179.1:n.1001+16822G>A
XR_001737967.1:n.1023+16822G>A
NM_024009.3:c.-255C>T (GJB3) MANE Select NP_076872.1:n.-255C>T
Search 100 bp 5'
Search 100 bp 3'