Canonical Allele Identifier: CA953785745

Gene: GJB6

Linked Data

• gnomAD v3: 13-20229819-G-C
• gnomAD v4: 13-20229819-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20229819G>C , CM000675.2:g.20229819G>C	GRCh38
NC_000013.10:g.20803958G>C , CM000675.1:g.20803958G>C	GRCh37
NC_000013.9:g.19701958G>C	NCBI36
NG_008323.1:g.7577C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241124.11:c.-185-70C>G	ENSP00000241124.6:n.-185-70C>G
ENST00000400066.8:c.-185-70C>G	ENSP00000382939.3:n.-185-70C>G
ENST00000642251.1:c.-186+15C>G	ENSP00000495437.1:n.-186+15C>G
ENST00000643121.1:c.-185-70C>G	ENSP00000494468.1:n.-185-70C>G
ENST00000643211.1:c.-185-70C>G	ENSP00000495841.1:n.-185-70C>G
ENST00000644236.1:c.-185-70C>G	ENSP00000494122.1:n.-185-70C>G
ENST00000644283.1:c.-185-70C>G	ENSP00000495320.1:n.-185-70C>G
ENST00000644667.1:c.-185-70C>G	ENSP00000493621.1:n.-185-70C>G
ENST00000646108.1:c.-206-49C>G	ENSP00000493512.1:n.-206-49C>G
ENST00000647029.1:c.-185-70C>G MANE Select	ENSP00000493834.1:n.-185-70C>G
ENST00000647243.1:c.-185-70C>G	ENSP00000494733.1:n.-185-70C>G
ENST00000241124.10:c.-185-70C>G	ENSP00000241124.6:n.-185-70C>G
ENST00000356192.6:c.-185-70C>G	ENSP00000348521.6:n.-185-70C>G
ENST00000400065.7:c.-185-70C>G	ENSP00000382938.3:n.-185-70C>G
ENST00000400066.7:c.-185-70C>G	ENSP00000382939.3:n.-185-70C>G
NM_001110219.2:c.-185-70C>G	NP_001103689.1:n.-185-70C>G
NM_001110220.2:c.-185-70C>G	NP_001103690.1:n.-185-70C>G
NM_001110221.2:c.-185-70C>G	NP_001103691.1:n.-185-70C>G
NM_006783.4:c.-185-70C>G	NP_006774.2:n.-185-70C>G
NM_001110219.3:c.-185-70C>G MANE Select	NP_001103689.1:n.-185-70C>G
NM_001370090.1:c.-185-70C>G	NP_001357019.1:n.-185-70C>G
NM_001370091.1:c.-185-70C>G	NP_001357020.1:n.-185-70C>G
NM_001370092.1:c.-185-70C>G	NP_001357021.1:n.-185-70C>G
NM_001110220.3:c.-185-70C>G	NP_001103690.1:n.-185-70C>G
NM_001110221.3:c.-185-70C>G	NP_001103691.1:n.-185-70C>G
NM_006783.5:c.-185-70C>G	NP_006774.2:n.-185-70C>G