Canonical Allele Identifier: CA6904398
Gene: GJB6 HGNC NCBI

Linked Data

ClinVar Variation Id: 311379
ClinVar RCV Id: RCV000323568
dbSNP Id: rs199790650

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20222801G>A , CM000675.2:g.20222801G>A GRCh38
NC_000013.10:g.20796940G>A , CM000675.1:g.20796940G>A GRCh37
NC_000013.9:g.19694940G>A NCBI36
NG_008323.1:g.14595C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000241124.11:c.680C>T ENSP00000241124.6:p.Thr227Met
ENST00000400066.8:c.680C>T ENSP00000382939.3:p.Thr227Met
ENST00000636852.1:c.680C>T ENSP00000489698.1:p.Thr227Met
ENST00000643121.1:c.680C>T ENSP00000494468.1:p.Thr227Met
ENST00000643211.1:c.680C>T ENSP00000495841.1:p.Thr227Met
ENST00000644283.1:c.680C>T ENSP00000495320.1:p.Thr227Met
ENST00000644667.1:c.680C>T ENSP00000493621.1:p.Thr227Met
ENST00000647029.1:c.680C>T MANE Select ENSP00000493834.1:p.Thr227Met
ENST00000647243.1:c.680C>T ENSP00000494733.1:p.Thr227Met
ENST00000241124.10:c.680C>T ENSP00000241124.6:p.Thr227Met
ENST00000356192.6:c.680C>T ENSP00000348521.6:p.Thr227Met
ENST00000400065.7:c.680C>T ENSP00000382938.3:p.Thr227Met
ENST00000400066.7:c.680C>T ENSP00000382939.3:p.Thr227Met
NM_001110219.2:c.680C>T NP_001103689.1:p.Thr227Met
NM_001110220.2:c.680C>T NP_001103690.1:p.Thr227Met
NM_001110221.2:c.680C>T NP_001103691.1:p.Thr227Met
NM_006783.4:c.680C>T NP_006774.2:p.Thr227Met
NM_001110219.3:c.680C>T MANE Select NP_001103689.1:p.Thr227Met
NM_001370090.1:c.680C>T NP_001357019.1:p.Thr227Met
NM_001370091.1:c.680C>T NP_001357020.1:p.Thr227Met
NM_001370092.1:c.680C>T NP_001357021.1:p.Thr227Met
NM_001110220.3:c.680C>T NP_001103690.1:p.Thr227Met
NM_001110221.3:c.680C>T NP_001103691.1:p.Thr227Met
NM_006783.5:c.680C>T NP_006774.2:p.Thr227Met