Canonical Allele Identifier: CA754590
Gene: GJB4 HGNC NCBI
SMIM12 HGNC NCBI
ClinVar RCV:
RCV001639270
ClinVar Variation:
1236755
COSMIC:
COSM3677676
dbSNP:
78499418
gnomAD v2:
1:35227306 C / A
gnomAD v3:
1:34761705 C / A
gnomAD v4:
chr1-34761705-C-A
Joint Max Group AF 0.10380491 (AMR)
Genomes Max Group AF 0.08586304 (AFR)
Exomes Max Group AF 0.11759106 (AMR)
MyVariant.info:
GRCh38 chr1:g.34761705C>A
GRCh37 chr1:g.35227306C>A
Revel Score:
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34761705C>A , CM000663.2:g.34761705C>A GRCh38
NC_000001.10:g.35227306C>A , CM000663.1:g.35227306C>A GRCh37
NC_000001.9:g.34999893C>A NCBI36
NG_016243.1:g.6965C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000339480.3:c.451C>A (GJB4) MANE Select ENSP00000345868.1:p.Arg151Ser
ENST00000339480.1:c.451C>A (GJB4) ENSP00000345868.1:p.Arg151Ser
ENST00000426886.1:c.208-43296G>T (SMIM12) ENSP00000429902.1:n.208-43296G>T
NM_153212.2:c.451C>A (GJB4) NP_694944.1:p.Arg151Ser
XM_011540679.1:c.451C>A (GJB4) XP_011538981.1:p.Arg151Ser
XR_947179.1:n.1002-18256G>T
XM_011540679.2:c.451C>A (GJB4) XP_011538981.1:p.Arg151Ser
XR_001737967.1:n.1023+36666G>T
NM_153212.3:c.451C>A (GJB4) MANE Select NP_694944.1:p.Arg151Ser
Search 100 bp 5'
Search 100 bp 3'