Canonical Allele Identifier: CA201730
Gene: GJB4 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

ClinVar Variation Id: 195421
ClinVar RCV Id: RCV000175989 RCV000964806 RCV002505255
dbSNP Id: rs139849901
ExAC: 1:35227005 CT / C
gnomAD v2: 1-35227005-CT-C
gnomAD v3: 1-34761404-CT-C
gnomAD v4: 1-34761404-CT-C
MyVariant Identifiers: chr1:g.35227008del (hg19) chr1:g.35227006del (hg19) chr1:g.34761407del (hg38) chr1:g.34761406del (hg38) chr1:g.34761405del (hg38)
PubMed: PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34761407del , CM000663.2:g.34761407del GRCh38
NC_000001.10:g.35227008del , CM000663.1:g.35227008del GRCh37
NC_000001.9:g.34999595del NCBI36
NG_016243.1:g.6667del

Transcript Alleles

HGVS Amino-acid Change
ENST00000339480.3:c.153del (GJB4) MANE Select ENSP00000345868.1:p.Phe51LeufsTer?
ENST00000339480.1:c.153del (GJB4) ENSP00000345868.1:p.Phe51LeufsTer?
ENST00000426886.1:c.208-42996del (SMIM12) ENSP00000429902.1:n.208-42996del
NM_153212.2:c.153del (GJB4) NP_694944.1:p.Phe51LeufsTer?
XM_011540679.1:c.153del (GJB4) XP_011538981.1:p.Phe51LeufsTer?
XR_947179.1:n.1002-17956del
XM_011540679.2:c.153del (GJB4) XP_011538981.1:p.Phe51LeufsTer?
XR_001737967.1:n.1023+36966del
NM_153212.3:c.153del (GJB4) MANE Select NP_694944.1:p.Phe51LeufsTer?
Search 100 bp 5'
Search 100 bp 3'