Canonical Allele Identifier: CA953780630
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1959048366
gnomAD v3: 13-20187841-G-C
gnomAD v4: 13-20187841-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20187841G>C , CM000675.2:g.20187841G>C GRCh38
NC_000013.10:g.20761980G>C , CM000675.1:g.20761980G>C GRCh37
NC_000013.9:g.19659980G>C NCBI36
NG_008358.1:g.10135C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.*1060C>G ENSP00000372295.1:n.*1060C>G
ENST00000382848.5:c.*1060C>G MANE Select ENSP00000372299.4:n.*1060C>G
ENST00000382844.1:c.*1060C>G ENSP00000372295.1:n.*1060C>G
ENST00000382848.4:c.*1060C>G ENSP00000372299.4:n.*1060C>G
NM_004004.5:c.*1060C>G NP_003995.2:n.*1060C>G
XM_011535049.1:c.*1060C>G XP_011533351.1:n.*1060C>G
XM_011535049.2:c.*1060C>G XP_011533351.1:n.*1060C>G
NM_004004.6:c.*1060C>G MANE Select NP_003995.2:n.*1060C>G
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