Canonical Allele Identifier: CA10611033

Gene: GJB3 SMIM12

Linked Data

• ClinVar Variation Id: 297187
• ClinVar RCV Id: RCV000329588 ; RCV000992082
• dbSNP Id: rs113824402
• gnomAD v2: 1-35247264-C-G
• gnomAD v3: 1-34781663-C-G
• gnomAD v4: 1-34781663-C-G
• MyVariant Identifiers: chr1:g.35247264C>G (hg19) ; chr1:g.34781663C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34781663C>G , CM000663.2:g.34781663C>G	GRCh38
NC_000001.10:g.35247264C>G , CM000663.1:g.35247264C>G	GRCh37
NC_000001.9:g.35019851C>G	NCBI36
NG_008309.1:g.5475C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.-141C>G (GJB3) MANE Select	ENSP00000362464.2:n.-141C>G
ENST00000373366.2:c.-141C>G (GJB3)	ENSP00000362464.2:n.-141C>G
ENST00000426886.1:c.208-63254G>C (SMIM12)	ENSP00000429902.1:n.208-63254G>C
NM_024009.2:c.-141C>G (GJB3)	NP_076872.1:n.-141C>G
XR_947179.1:n.1001+16708G>C
XR_001737967.1:n.1023+16708G>C
NM_024009.3:c.-141C>G (GJB3) MANE Select	NP_076872.1:n.-141C>G