Canonical Allele Identifier: CA279082

Gene: GJB1

Linked Data

• ClinVar Variation Id: 217166
• ClinVar RCV Id: RCV000201088 ; RCV000228634 ; RCV001276387 ; RCV001570001
• dbSNP Id: rs863224971
• gnomAD v4: X-71223249-C-T
• MyVariant Identifiers: chrX:g.70443099C>T (hg19) ; chrX:g.71223249C>T (hg38)
• PubMed: PMID:8757034 ; PMID:10931843 ; PMID:19335535

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71223249C>T , CM000685.2:g.71223249C>T	GRCh38
NC_000023.10:g.70443099C>T , CM000685.1:g.70443099C>T	GRCh37
NC_000023.9:g.70359824C>T	NCBI36
NG_008357.1:g.13038C>T , LRG_245:g.13038C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361726.7:c.-103C>T MANE Select	ENSP00000354900.6:n.-103C>T
ENST00000374029.2:c.-16-443C>T	ENSP00000363141.1:n.-16-443C>T
ENST00000447581.2:c.-16-443C>T	ENSP00000407223.2:n.-16-443C>T
ENST00000645009.2:c.-16-443C>T	ENSP00000494142.2:n.-16-443C>T
ENST00000646835.1:c.-103C>T	ENSP00000494596.1:n.-103C>T
ENST00000647424.1:c.-16-443C>T	ENSP00000495960.1:n.-16-443C>T
ENST00000674549.1:c.-16-443C>T	ENSP00000502766.1:n.-16-443C>T
ENST00000674844.1:c.-16-443C>T	ENSP00000502556.1:n.-16-443C>T
ENST00000675209.1:c.-16-443C>T	ENSP00000501813.1:n.-16-443C>T
ENST00000675368.1:c.-16-443C>T	ENSP00000501757.1:n.-16-443C>T
ENST00000675609.1:c.-103C>T	ENSP00000501571.1:n.-103C>T
ENST00000361726.6:c.-103C>T	ENSP00000354900.6:n.-103C>T
ENST00000374022.3:c.-16-443C>T	ENSP00000363134.3:n.-16-443C>T
ENST00000374029.1:c.-16-443C>T	ENSP00000363141.1:n.-16-443C>T
ENST00000447581.1:c.-16-443C>T	ENSP00000407223.1:n.-16-443C>T
NM_000166.5:c.-103C>T	NP_000157.1:n.-103C>T
NM_001097642.2:c.-16-443C>T , LRG_245t1:c.-16-443C>T	NP_001091111.1:n.-16-443C>T
XM_011530907.1:c.-16-443C>T	XP_011529209.1:n.-16-443C>T
XM_011530907.2:c.-16-443C>T	XP_011529209.1:n.-16-443C>T
NM_000166.6:c.-103C>T MANE Select	NP_000157.1:n.-103C>T
NM_001097642.3:c.-16-443C>T	NP_001091111.1:n.-16-443C>T