Canonical Allele Identifier: CA413501135

Gene: GJB1

Linked Data

• ClinVar Variation Id: 430122
• ClinVar RCV Id: RCV000493545 ; RCV000518090 ; RCV000789248 ; RCV001856974
• dbSNP Id: rs913934445
• MyVariant Identifiers: chrX:g.70443705T>C (hg19) ; chrX:g.71223855T>C (hg38)
• PubMed: PMID:10732813

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71223855T>C , CM000685.2:g.71223855T>C	GRCh38
NC_000023.10:g.70443705T>C , CM000685.1:g.70443705T>C	GRCh37
NC_000023.9:g.70360430T>C	NCBI36
NG_008357.1:g.13644T>C , LRG_245:g.13644T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361726.7:c.148T>C MANE Select	ENSP00000354900.6:p.Ser50Pro
ENST00000374029.2:c.148T>C	ENSP00000363141.1:p.Ser50Pro
ENST00000447581.2:c.148T>C	ENSP00000407223.2:p.Ser50Pro
ENST00000645009.2:c.148T>C	ENSP00000494142.2:p.Ser50Pro
ENST00000646835.1:c.148T>C	ENSP00000494596.1:p.Ser50Pro
ENST00000647424.1:c.148T>C	ENSP00000495960.1:p.Ser50Pro
ENST00000674549.1:c.148T>C	ENSP00000502766.1:p.Ser50Pro
ENST00000674844.1:c.148T>C	ENSP00000502556.1:p.Ser50Pro
ENST00000675209.1:c.148T>C	ENSP00000501813.1:p.Ser50Pro
ENST00000675368.1:c.148T>C	ENSP00000501757.1:p.Ser50Pro
ENST00000675609.1:c.148T>C	ENSP00000501571.1:p.Ser50Pro
ENST00000361726.6:c.148T>C	ENSP00000354900.6:p.Ser50Pro
ENST00000374022.3:c.148T>C	ENSP00000363134.3:p.Ser50Pro
ENST00000374029.1:c.148T>C	ENSP00000363141.1:p.Ser50Pro
ENST00000447581.1:c.148T>C	ENSP00000407223.1:p.Ser50Pro
NM_000166.5:c.148T>C	NP_000157.1:p.Ser50Pro
NM_001097642.2:c.148T>C , LRG_245t1:c.148T>C	NP_001091111.1:p.Ser50Pro
XM_011530907.1:c.148T>C	XP_011529209.1:p.Ser50Pro
XM_011530907.2:c.148T>C	XP_011529209.1:p.Ser50Pro
NM_000166.6:c.148T>C MANE Select	NP_000157.1:p.Ser50Pro
NM_001097642.3:c.148T>C	NP_001091111.1:p.Ser50Pro