Canonical Allele Identifier: CA413501835

Gene: GJB1

Linked Data

• ClinVar Variation Id: 637609
• ClinVar RCV Id: RCV000789868 ; RCV001869228
• dbSNP Id: rs1602349137
• MyVariant Identifiers: chrX:g.70443857C>G (hg19) ; chrX:g.71224007C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71224007C>G , CM000685.2:g.71224007C>G	GRCh38
NC_000023.10:g.70443857C>G , CM000685.1:g.70443857C>G	GRCh37
NC_000023.9:g.70360582C>G	NCBI36
NG_008357.1:g.13796C>G , LRG_245:g.13796C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361726.7:c.300C>G MANE Select	ENSP00000354900.6:p.His100Gln
ENST00000374029.2:c.300C>G	ENSP00000363141.1:p.His100Gln
ENST00000447581.2:c.300C>G	ENSP00000407223.2:p.His100Gln
ENST00000645009.2:c.300C>G	ENSP00000494142.2:p.His100Gln
ENST00000646835.1:c.300C>G	ENSP00000494596.1:p.His100Gln
ENST00000647424.1:c.300C>G	ENSP00000495960.1:p.His100Gln
ENST00000674549.1:c.300C>G	ENSP00000502766.1:p.His100Gln
ENST00000674844.1:c.300C>G	ENSP00000502556.1:p.His100Gln
ENST00000675209.1:c.300C>G	ENSP00000501813.1:p.His100Gln
ENST00000675368.1:c.300C>G	ENSP00000501757.1:p.His100Gln
ENST00000675609.1:c.300C>G	ENSP00000501571.1:p.His100Gln
ENST00000361726.6:c.300C>G	ENSP00000354900.6:p.His100Gln
ENST00000374022.3:c.300C>G	ENSP00000363134.3:p.His100Gln
ENST00000374029.1:c.300C>G	ENSP00000363141.1:p.His100Gln
NM_000166.5:c.300C>G	NP_000157.1:p.His100Gln
NM_001097642.2:c.300C>G , LRG_245t1:c.300C>G	NP_001091111.1:p.His100Gln
XM_011530907.1:c.300C>G	XP_011529209.1:p.His100Gln
XM_011530907.2:c.300C>G	XP_011529209.1:p.His100Gln
NM_000166.6:c.300C>G MANE Select	NP_000157.1:p.His100Gln
NM_001097642.3:c.300C>G	NP_001091111.1:p.His100Gln