Canonical Allele Identifier: CA754509
Gene: GJB4 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

ClinVar Variation Id: 780230
ClinVar RCV Id: RCV000961271
dbSNP Id: rs147354864
ExAC: 1:35227062 C / G
gnomAD v2: 1-35227062-C-G
gnomAD v3: 1-34761461-C-G
gnomAD v4: 1-34761461-C-G
MyVariant Identifiers: chr1:g.35227062C>G (hg19) chr1:g.34761461C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34761461C>G , CM000663.2:g.34761461C>G GRCh38
NC_000001.10:g.35227062C>G , CM000663.1:g.35227062C>G GRCh37
NC_000001.9:g.34999649C>G NCBI36
NG_016243.1:g.6721C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000339480.3:c.207C>G (GJB4) MANE Select ENSP00000345868.1:p.Phe69Leu
ENST00000339480.1:c.207C>G (GJB4) ENSP00000345868.1:p.Phe69Leu
ENST00000426886.1:c.208-43052G>C (SMIM12) ENSP00000429902.1:n.208-43052G>C
NM_153212.2:c.207C>G (GJB4) NP_694944.1:p.Phe69Leu
XM_011540679.1:c.207C>G (GJB4) XP_011538981.1:p.Phe69Leu
XR_947179.1:n.1002-18012G>C
XM_011540679.2:c.207C>G (GJB4) XP_011538981.1:p.Phe69Leu
XR_001737967.1:n.1023+36910G>C
NM_153212.3:c.207C>G (GJB4) MANE Select NP_694944.1:p.Phe69Leu
Search 100 bp 5'
Search 100 bp 3'