Canonical Allele Identifier: CA134941
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44716
ClinVar RCV Id: RCV000037803 RCV000350337 RCV000375828 RCV000505513 RCV000757330
dbSNP Id: rs111033460
ExAC: 13:20763037 G / T
gnomAD v2: 13-20763037-G-T
gnomAD v3: 13-20188898-G-T
gnomAD v4: 13-20188898-G-T
MyVariant Identifiers: chr13:g.20763037G>T (hg19) chr13:g.20188898G>T (hg38)
PubMed: PMID:16645853
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188898G>T , CM000675.2:g.20188898G>T GRCh38
NC_000013.10:g.20763037G>T , CM000675.1:g.20763037G>T GRCh37
NC_000013.9:g.19661037G>T NCBI36
NG_008358.1:g.9078C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*3C>A ENSP00000372295.1:n.*3C>A
ENST00000382848.5:c.*3C>A MANE Select ENSP00000372299.4:n.*3C>A
ENST00000382844.1:c.*3C>A ENSP00000372295.1:n.*3C>A
ENST00000382848.4:c.*3C>A ENSP00000372299.4:n.*3C>A
NM_004004.5:c.*3C>A NP_003995.2:n.*3C>A
XM_011535049.1:c.*3C>A XP_011533351.1:n.*3C>A
XM_011535049.2:c.*3C>A XP_011533351.1:n.*3C>A
NM_004004.6:c.*3C>A MANE Select NP_003995.2:n.*3C>A
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