Canonical Allele Identifier: CA134975
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44754
ClinVar RCV Id: RCV000037857 RCV000270707 RCV000505519 RCV000755275 RCV001109786
dbSNP Id: rs111033186
ExAC: 13:20763264 C / T
gnomAD v2: 13-20763264-C-T
gnomAD v3: 13-20189125-C-T
gnomAD v4: 13-20189125-C-T
MyVariant Identifiers: chr13:g.20763264C>T (hg19) chr13:g.20189125C>T (hg38)
PubMed: PMID:1511312 PMID:11493200 PMID:11494963 PMID:11556849 PMID:12172394 PMID:12746422 PMID:12851846 PMID:14643477 PMID:14722929 PMID:14985372 PMID:15070423 PMID:15219044 PMID:15241677 PMID:15253766 PMID:15617550 PMID:15964725 PMID:16076412 PMID:16380907 PMID:17253936 PMID:19072567
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189125C>T , CM000675.2:g.20189125C>T GRCh38
NC_000013.10:g.20763264C>T , CM000675.1:g.20763264C>T GRCh37
NC_000013.9:g.19661264C>T NCBI36
NG_008358.1:g.8851G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.457G>A ENSP00000372295.1:p.Val153Ile
ENST00000382848.5:c.457G>A MANE Select ENSP00000372299.4:p.Val153Ile
ENST00000382844.1:c.457G>A ENSP00000372295.1:p.Val153Ile
ENST00000382848.4:c.457G>A ENSP00000372299.4:p.Val153Ile
NM_004004.5:c.457G>A NP_003995.2:p.Val153Ile
XM_011535049.1:c.457G>A XP_011533351.1:p.Val153Ile
XM_011535049.2:c.457G>A XP_011533351.1:p.Val153Ile
NM_004004.6:c.457G>A MANE Select NP_003995.2:p.Val153Ile
Search 100 bp 5'
Search 100 bp 3'