Canonical Allele Identifier: CA121071
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10451
ClinVar RCV Id: RCV000011196 RCV000011197
dbSNP Id: rs104894826
MyVariant Identifiers: chrX:g.70443964T>C (hg19) chrX:g.71224114T>C (hg38)
PubMed: PMID:15241803 PMID:15947997 PMID:20301548
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71224114T>C , CM000685.2:g.71224114T>C GRCh38
NC_000023.10:g.70443964T>C , CM000685.1:g.70443964T>C GRCh37
NC_000023.9:g.70360689T>C NCBI36
NG_008357.1:g.13903T>C , LRG_245:g.13903T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361726.7:c.407T>C MANE Select ENSP00000354900.6:p.Val136Ala
ENST00000374029.2:c.407T>C ENSP00000363141.1:p.Val136Ala
ENST00000447581.2:c.407T>C ENSP00000407223.2:p.Val136Ala
ENST00000645009.2:c.407T>C ENSP00000494142.2:p.Val136Ala
ENST00000646835.1:c.407T>C ENSP00000494596.1:p.Val136Ala
ENST00000647424.1:c.407T>C ENSP00000495960.1:p.Val136Ala
ENST00000674549.1:c.407T>C ENSP00000502766.1:p.Val136Ala
ENST00000674844.1:c.407T>C ENSP00000502556.1:p.Val136Ala
ENST00000675209.1:c.407T>C ENSP00000501813.1:p.Val136Ala
ENST00000675368.1:c.407T>C ENSP00000501757.1:p.Val136Ala
ENST00000675609.1:c.407T>C ENSP00000501571.1:p.Val136Ala
ENST00000361726.6:c.407T>C ENSP00000354900.6:p.Val136Ala
ENST00000374022.3:c.407T>C ENSP00000363134.3:p.Val136Ala
ENST00000374029.1:c.407T>C ENSP00000363141.1:p.Val136Ala
NM_000166.5:c.407T>C NP_000157.1:p.Val136Ala
NM_001097642.2:c.407T>C , LRG_245t1:c.407T>C NP_001091111.1:p.Val136Ala
XM_011530907.1:c.407T>C XP_011529209.1:p.Val136Ala
XM_011530907.2:c.407T>C XP_011529209.1:p.Val136Ala
NM_000166.6:c.407T>C MANE Select NP_000157.1:p.Val136Ala
NM_001097642.3:c.407T>C NP_001091111.1:p.Val136Ala
Search 100 bp 5'
Search 100 bp 3'