Canonical Allele Identifier: CA754714

Gene: GJB3 SMIM12

Linked Data

• ClinVar Variation Id: 297189
• ClinVar RCV Id: RCV000407109
• dbSNP Id: rs371413520
• ExAC: 1:35250346 C / T
• gnomAD v2: 1-35250346-C-T
• gnomAD v3: 1-34784745-C-T
• gnomAD v4: 1-34784745-C-T
• MyVariant Identifiers: chr1:g.35250346C>T (hg19) ; chr1:g.34784745C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34784745C>T , CM000663.2:g.34784745C>T	GRCh38
NC_000001.10:g.35250346C>T , CM000663.1:g.35250346C>T	GRCh37
NC_000001.9:g.35022933C>T	NCBI36
NG_008309.1:g.8557C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373366.3:c.-18C>T (GJB3) MANE Select	ENSP00000362464.2:n.-18C>T
ENST00000373362.3:c.-18C>T (GJB3)	ENSP00000362460.3:n.-18C>T
ENST00000373366.2:c.-18C>T (GJB3)	ENSP00000362464.2:n.-18C>T
ENST00000426886.1:c.208-66336G>A (SMIM12)	ENSP00000429902.1:n.208-66336G>A
NM_001005752.1:c.-18C>T (GJB3)	NP_001005752.1:n.-18C>T
NM_024009.2:c.-18C>T (GJB3)	NP_076872.1:n.-18C>T
XR_947179.1:n.1001+13626G>A
XR_001737967.1:n.1023+13626G>A
NM_024009.3:c.-18C>T (GJB3) MANE Select	NP_076872.1:n.-18C>T
NM_001005752.2:c.-18C>T (GJB3)	NP_001005752.1:n.-18C>T