Canonical Allele Identifier: CA339300639
Gene: GJB4 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

ClinVar Variation Id: 3099972
ClinVar RCV Id: RCV004390797
gnomAD v4: 1-34761477-C-A
MyVariant Identifiers: chr1:g.35227078C>A (hg19) chr1:g.34761477C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34761477C>A , CM000663.2:g.34761477C>A GRCh38
NC_000001.10:g.35227078C>A , CM000663.1:g.35227078C>A GRCh37
NC_000001.9:g.34999665C>A NCBI36
NG_016243.1:g.6737C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000339480.3:c.223C>A (GJB4) MANE Select ENSP00000345868.1:p.Arg75Ser
ENST00000339480.1:c.223C>A (GJB4) ENSP00000345868.1:p.Arg75Ser
ENST00000426886.1:c.208-43068G>T (SMIM12) ENSP00000429902.1:n.208-43068G>T
NM_153212.2:c.223C>A (GJB4) NP_694944.1:p.Arg75Ser
XM_011540679.1:c.223C>A (GJB4) XP_011538981.1:p.Arg75Ser
XR_947179.1:n.1002-18028G>T
XM_011540679.2:c.223C>A (GJB4) XP_011538981.1:p.Arg75Ser
XR_001737967.1:n.1023+36894G>T
NM_153212.3:c.223C>A (GJB4) MANE Select NP_694944.1:p.Arg75Ser
Search 100 bp 5'
Search 100 bp 3'