Canonical Allele Identifier: CA754480
Gene: GJB4 HGNC NCBI
SMIM12 HGNC NCBI
ClinVar RCV:
RCV003406316
ClinVar Variation:
2638640
COSMIC:
COSM2079843
dbSNP:
764338808
gnomAD v2:
1:35226975 G / A
gnomAD v3:
1:34761374 G / A
gnomAD v4:
chr1-34761374-G-A
Joint Max Group AF 0.00026483 (SAS)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00027958 (SAS)
MyVariant.info:
GRCh38 chr1:g.34761374G>A
GRCh37 chr1:g.35226975G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34761374G>A , CM000663.2:g.34761374G>A GRCh38
NC_000001.10:g.35226975G>A , CM000663.1:g.35226975G>A GRCh37
NC_000001.9:g.34999562G>A NCBI36
NG_016243.1:g.6634G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000339480.3:c.120G>A (GJB4) MANE Select ENSP00000345868.1:p.Ala40=
ENST00000339480.1:c.120G>A (GJB4) ENSP00000345868.1:p.Ala40=
ENST00000426886.1:c.208-42965C>T (SMIM12) ENSP00000429902.1:n.208-42965C>T
NM_153212.2:c.120G>A (GJB4) NP_694944.1:p.Ala40=
XM_011540679.1:c.120G>A (GJB4) XP_011538981.1:p.Ala40=
XR_947179.1:n.1002-17925C>T
XM_011540679.2:c.120G>A (GJB4) XP_011538981.1:p.Ala40=
XR_001737967.1:n.1023+36997C>T
NM_153212.3:c.120G>A (GJB4) MANE Select NP_694944.1:p.Ala40=
Search 100 bp 5'
Search 100 bp 3'