Canonical Allele Identifier: CA10643947

Gene: GJB6

Linked Data

• ClinVar Variation Id: 311385
• ClinVar RCV Id: RCV000345290
• dbSNP Id: rs886050030
• gnomAD v3: 13-20229590-T-C
• gnomAD v4: 13-20229590-T-C
• MyVariant Identifiers: chr13:g.20803729T>C (hg19) ; chr13:g.20229590T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20229590T>C , CM000675.2:g.20229590T>C	GRCh38
NC_000013.10:g.20803729T>C , CM000675.1:g.20803729T>C	GRCh37
NC_000013.9:g.19701729T>C	NCBI36
NG_008323.1:g.7806A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000241124.11:c.-26A>G	ENSP00000241124.6:n.-26A>G
ENST00000400066.8:c.-26A>G	ENSP00000382939.3:n.-26A>G
ENST00000642251.1:c.-26A>G	ENSP00000495437.1:n.-26A>G
ENST00000643121.1:c.-26A>G	ENSP00000494468.1:n.-26A>G
ENST00000643211.1:c.-26A>G	ENSP00000495841.1:n.-26A>G
ENST00000644236.1:c.-26A>G	ENSP00000494122.1:n.-26A>G
ENST00000644283.1:c.-26A>G	ENSP00000495320.1:n.-26A>G
ENST00000644667.1:c.-26A>G	ENSP00000493621.1:n.-26A>G
ENST00000645654.1:c.-26A>G	ENSP00000494720.1:n.-26A>G
ENST00000646108.1:c.-26A>G	ENSP00000493512.1:n.-26A>G
ENST00000647029.1:c.-26A>G MANE Select	ENSP00000493834.1:n.-26A>G
ENST00000647243.1:c.-26A>G	ENSP00000494733.1:n.-26A>G
ENST00000241124.10:c.-26A>G	ENSP00000241124.6:n.-26A>G
ENST00000356192.6:c.-26A>G	ENSP00000348521.6:n.-26A>G
ENST00000400065.7:c.-26A>G	ENSP00000382938.3:n.-26A>G
ENST00000400066.7:c.-26A>G	ENSP00000382939.3:n.-26A>G
NM_001110219.2:c.-26A>G	NP_001103689.1:n.-26A>G
NM_001110220.2:c.-26A>G	NP_001103690.1:n.-26A>G
NM_001110221.2:c.-26A>G	NP_001103691.1:n.-26A>G
NM_006783.4:c.-26A>G	NP_006774.2:n.-26A>G
NM_001110219.3:c.-26A>G MANE Select	NP_001103689.1:n.-26A>G
NM_001370090.1:c.-26A>G	NP_001357019.1:n.-26A>G
NM_001370091.1:c.-26A>G	NP_001357020.1:n.-26A>G
NM_001370092.1:c.-26A>G	NP_001357021.1:n.-26A>G
NM_001110220.3:c.-26A>G	NP_001103690.1:n.-26A>G
NM_001110221.3:c.-26A>G	NP_001103691.1:n.-26A>G
NM_006783.5:c.-26A>G	NP_006774.2:n.-26A>G