Canonical Allele Identifier: CA696366014
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1363144118
gnomAD v3: 13-20192649-C-T
gnomAD v4: 13-20192649-C-T
MyVariant Identifiers: chr13:g.20766788C>T (hg19) chr13:g.20192649C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192649C>T , CM000675.2:g.20192649C>T GRCh38
NC_000013.10:g.20766788C>T , CM000675.1:g.20766788C>T GRCh37
NC_000013.9:g.19664788C>T NCBI36
NG_008358.1:g.5327G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382848.5:c.-23+134G>A MANE Select ENSP00000372299.4:n.-23+134G>A
ENST00000382848.4:c.-23+134G>A ENSP00000372299.4:n.-23+134G>A
NM_004004.5:c.-23+134G>A NP_003995.2:n.-23+134G>A
NM_004004.6:c.-23+134G>A MANE Select NP_003995.2:n.-23+134G>A
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