Canonical Allele Identifier: CA16616704
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406226
ClinVar RCV Id: RCV000468413
dbSNP Id: rs1060501000
MyVariant Identifiers: chrX:g.70443659G>A (hg19) chrX:g.71223809G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71223809G>A , CM000685.2:g.71223809G>A GRCh38
NC_000023.10:g.70443659G>A , CM000685.1:g.70443659G>A GRCh37
NC_000023.9:g.70360384G>A NCBI36
NG_008357.1:g.13598G>A , LRG_245:g.13598G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361726.7:c.102G>A MANE Select ENSP00000354900.6:p.Met34Ile
ENST00000374029.2:c.102G>A ENSP00000363141.1:p.Met34Ile
ENST00000447581.2:c.102G>A ENSP00000407223.2:p.Met34Ile
ENST00000645009.2:c.102G>A ENSP00000494142.2:p.Met34Ile
ENST00000646835.1:c.102G>A ENSP00000494596.1:p.Met34Ile
ENST00000647424.1:c.102G>A ENSP00000495960.1:p.Met34Ile
ENST00000674549.1:c.102G>A ENSP00000502766.1:p.Met34Ile
ENST00000674844.1:c.102G>A ENSP00000502556.1:p.Met34Ile
ENST00000675209.1:c.102G>A ENSP00000501813.1:p.Met34Ile
ENST00000675368.1:c.102G>A ENSP00000501757.1:p.Met34Ile
ENST00000675609.1:c.102G>A ENSP00000501571.1:p.Met34Ile
ENST00000361726.6:c.102G>A ENSP00000354900.6:p.Met34Ile
ENST00000374022.3:c.102G>A ENSP00000363134.3:p.Met34Ile
ENST00000374029.1:c.102G>A ENSP00000363141.1:p.Met34Ile
ENST00000447581.1:c.102G>A ENSP00000407223.1:p.Met34Ile
NM_000166.5:c.102G>A NP_000157.1:p.Met34Ile
NM_001097642.2:c.102G>A , LRG_245t1:c.102G>A NP_001091111.1:p.Met34Ile
XM_011530907.1:c.102G>A XP_011529209.1:p.Met34Ile
XM_011530907.2:c.102G>A XP_011529209.1:p.Met34Ile
NM_000166.6:c.102G>A MANE Select NP_000157.1:p.Met34Ile
NM_001097642.3:c.102G>A NP_001091111.1:p.Met34Ile
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