Canonical Allele Identifier: CA6904270
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1083190
ClinVar RCV Id: RCV001399797
dbSNP Id: rs750795475
ExAC: 13:20763283 G / A
gnomAD v2: 13-20763283-G-A
gnomAD v3: 13-20189144-G-A
gnomAD v4: 13-20189144-G-A
MyVariant Identifiers: chr13:g.20763283G>A (hg19) chr13:g.20189144G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189144G>A , CM000675.2:g.20189144G>A GRCh38
NC_000013.10:g.20763283G>A , CM000675.1:g.20763283G>A GRCh37
NC_000013.9:g.19661283G>A NCBI36
NG_008358.1:g.8832C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.438C>T ENSP00000372295.1:p.Phe146=
ENST00000382848.5:c.438C>T MANE Select ENSP00000372299.4:p.Phe146=
ENST00000382844.1:c.438C>T ENSP00000372295.1:p.Phe146=
ENST00000382848.4:c.438C>T ENSP00000372299.4:p.Phe146=
NM_004004.5:c.438C>T NP_003995.2:p.Phe146=
XM_011535049.1:c.438C>T XP_011533351.1:p.Phe146=
XM_011535049.2:c.438C>T XP_011533351.1:p.Phe146=
NM_004004.6:c.438C>T MANE Select NP_003995.2:p.Phe146=
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