Canonical Allele Identifier: CA483154301

Gene: GJB6

Linked Data

• ClinVar Variation Id: 598442
• ClinVar RCV Id: RCV000734830
• dbSNP Id: rs1566538566
• MyVariant Identifiers: chr13:g.20797266T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20223127T>G , CM000675.2:g.20223127T>G	GRCh38
NC_000013.10:g.20797266T>G , CM000675.1:g.20797266T>G	GRCh37
NC_000013.9:g.19695266T>G	NCBI36
NG_008323.1:g.14269A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000241124.11:c.354A>C	ENSP00000241124.6:p.Ile118=
ENST00000400066.8:c.354A>C	ENSP00000382939.3:p.Ile118=
ENST00000636852.1:c.354A>C	ENSP00000489698.1:p.Ile118=
ENST00000643121.1:c.354A>C	ENSP00000494468.1:p.Ile118=
ENST00000643211.1:c.354A>C	ENSP00000495841.1:p.Ile118=
ENST00000644283.1:c.354A>C	ENSP00000495320.1:p.Ile118=
ENST00000644667.1:c.354A>C	ENSP00000493621.1:p.Ile118=
ENST00000647029.1:c.354A>C MANE Select	ENSP00000493834.1:p.Ile118=
ENST00000647243.1:c.354A>C	ENSP00000494733.1:p.Ile118=
ENST00000241124.10:c.354A>C	ENSP00000241124.6:p.Ile118=
ENST00000356192.6:c.354A>C	ENSP00000348521.6:p.Ile118=
ENST00000400065.7:c.354A>C	ENSP00000382938.3:p.Ile118=
ENST00000400066.7:c.354A>C	ENSP00000382939.3:p.Ile118=
NM_001110219.2:c.354A>C	NP_001103689.1:p.Ile118=
NM_001110220.2:c.354A>C	NP_001103690.1:p.Ile118=
NM_001110221.2:c.354A>C	NP_001103691.1:p.Ile118=
NM_006783.4:c.354A>C	NP_006774.2:p.Ile118=
NM_001110219.3:c.354A>C MANE Select	NP_001103689.1:p.Ile118=
NM_001370090.1:c.354A>C	NP_001357019.1:p.Ile118=
NM_001370091.1:c.354A>C	NP_001357020.1:p.Ile118=
NM_001370092.1:c.354A>C	NP_001357021.1:p.Ile118=
NM_001110220.3:c.354A>C	NP_001103690.1:p.Ile118=
NM_001110221.3:c.354A>C	NP_001103691.1:p.Ile118=
NM_006783.5:c.354A>C	NP_006774.2:p.Ile118=