Canonical Allele Identifier: CA387467345

Gene: GJB6

Linked Data

• dbSNP Id: rs1869268178
• gnomAD v3: 13-20222788-G-T
• gnomAD v4: 13-20222788-G-T
• MyVariant Identifiers: chr13:g.20796927G>T (hg19) ; chr13:g.20222788G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20222788G>T , CM000675.2:g.20222788G>T	GRCh38
NC_000013.10:g.20796927G>T , CM000675.1:g.20796927G>T	GRCh37
NC_000013.9:g.19694927G>T	NCBI36
NG_008323.1:g.14608C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241124.11:c.693C>A	ENSP00000241124.6:p.His231Gln
ENST00000400066.8:c.693C>A	ENSP00000382939.3:p.His231Gln
ENST00000636852.1:c.693C>A	ENSP00000489698.1:p.His231Gln
ENST00000643121.1:c.693C>A	ENSP00000494468.1:p.His231Gln
ENST00000643211.1:c.693C>A	ENSP00000495841.1:p.His231Gln
ENST00000644283.1:c.693C>A	ENSP00000495320.1:p.His231Gln
ENST00000644667.1:c.693C>A	ENSP00000493621.1:p.His231Gln
ENST00000647029.1:c.693C>A MANE Select	ENSP00000493834.1:p.His231Gln
ENST00000647243.1:c.693C>A	ENSP00000494733.1:p.His231Gln
ENST00000241124.10:c.693C>A	ENSP00000241124.6:p.His231Gln
ENST00000356192.6:c.693C>A	ENSP00000348521.6:p.His231Gln
ENST00000400065.7:c.693C>A	ENSP00000382938.3:p.His231Gln
ENST00000400066.7:c.693C>A	ENSP00000382939.3:p.His231Gln
NM_001110219.2:c.693C>A	NP_001103689.1:p.His231Gln
NM_001110220.2:c.693C>A	NP_001103690.1:p.His231Gln
NM_001110221.2:c.693C>A	NP_001103691.1:p.His231Gln
NM_006783.4:c.693C>A	NP_006774.2:p.His231Gln
NM_001110219.3:c.693C>A MANE Select	NP_001103689.1:p.His231Gln
NM_001370090.1:c.693C>A	NP_001357019.1:p.His231Gln
NM_001370091.1:c.693C>A	NP_001357020.1:p.His231Gln
NM_001370092.1:c.693C>A	NP_001357021.1:p.His231Gln
NM_001110220.3:c.693C>A	NP_001103690.1:p.His231Gln
NM_001110221.3:c.693C>A	NP_001103691.1:p.His231Gln
NM_006783.5:c.693C>A	NP_006774.2:p.His231Gln