Canonical Allele Identifier: CA754519
Gene: GJB4 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

ClinVar Variation Id: 711824
ClinVar RCV Id: RCV000883644
dbSNP Id: rs138315535
ExAC: 1:35227083 C / G
gnomAD v2: 1-35227083-C-G
gnomAD v3: 1-34761482-C-G
gnomAD v4: 1-34761482-C-G
MyVariant Identifiers: chr1:g.35227083C>G (hg19) chr1:g.34761482C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34761482C>G , CM000663.2:g.34761482C>G GRCh38
NC_000001.10:g.35227083C>G , CM000663.1:g.35227083C>G GRCh37
NC_000001.9:g.34999670C>G NCBI36
NG_016243.1:g.6742C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000339480.3:c.228C>G (GJB4) MANE Select ENSP00000345868.1:p.Leu76=
ENST00000339480.1:c.228C>G (GJB4) ENSP00000345868.1:p.Leu76=
ENST00000426886.1:c.208-43073G>C (SMIM12) ENSP00000429902.1:n.208-43073G>C
NM_153212.2:c.228C>G (GJB4) NP_694944.1:p.Leu76=
XM_011540679.1:c.228C>G (GJB4) XP_011538981.1:p.Leu76=
XR_947179.1:n.1002-18033G>C
XM_011540679.2:c.228C>G (GJB4) XP_011538981.1:p.Leu76=
XR_001737967.1:n.1023+36889G>C
NM_153212.3:c.228C>G (GJB4) MANE Select NP_694944.1:p.Leu76=
Search 100 bp 5'
Search 100 bp 3'