Canonical Allele Identifier: CA754446
Gene: GJB4 HGNC NCBI
SMIM12 HGNC NCBI
ClinVar RCV:
RCV003370595
ClinVar Variation:
2596632
dbSNP:
201611468
gnomAD v2:
1:35226862 T / C
gnomAD v3:
1:34761261 T / C
gnomAD v4:
chr1-34761261-T-C
Joint Max Group AF 0.00020579 (EAS)
Genomes Max Group AF 0.00063342 (EAS)
Exomes Max Group AF 0.00009928 (EAS)
MyVariant.info:
GRCh38 chr1:g.34761261T>C
GRCh37 chr1:g.35226862T>C
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34761261T>C , CM000663.2:g.34761261T>C GRCh38
NC_000001.10:g.35226862T>C , CM000663.1:g.35226862T>C GRCh37
NC_000001.9:g.34999449T>C NCBI36
NG_016243.1:g.6521T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000339480.3:c.7T>C (GJB4) MANE Select ENSP00000345868.1:p.Trp3Arg
ENST00000339480.1:c.7T>C (GJB4) ENSP00000345868.1:p.Trp3Arg
ENST00000426886.1:c.208-42852A>G (SMIM12) ENSP00000429902.1:n.208-42852A>G
NM_153212.2:c.7T>C (GJB4) NP_694944.1:p.Trp3Arg
XM_011540679.1:c.7T>C (GJB4) XP_011538981.1:p.Trp3Arg
XR_947179.1:n.1002-17812A>G
XM_011540679.2:c.7T>C (GJB4) XP_011538981.1:p.Trp3Arg
XR_001737967.1:n.1023+37110A>G
NM_153212.3:c.7T>C (GJB4) MANE Select NP_694944.1:p.Trp3Arg
Search 100 bp 5'
Search 100 bp 3'