Canonical Allele Identifier: CA339301258
Gene: GJB4 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

dbSNP Id: rs200609512
gnomAD v4: 1-34761566-G-C
MyVariant Identifiers: chr1:g.35227167G>C (hg19) chr1:g.34761566G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34761566G>C , CM000663.2:g.34761566G>C GRCh38
NC_000001.10:g.35227167G>C , CM000663.1:g.35227167G>C GRCh37
NC_000001.9:g.34999754G>C NCBI36
NG_016243.1:g.6826G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000339480.3:c.312G>C (GJB4) MANE Select ENSP00000345868.1:p.Lys104Asn
ENST00000339480.1:c.312G>C (GJB4) ENSP00000345868.1:p.Lys104Asn
ENST00000426886.1:c.208-43157C>G (SMIM12) ENSP00000429902.1:n.208-43157C>G
NM_153212.2:c.312G>C (GJB4) NP_694944.1:p.Lys104Asn
XM_011540679.1:c.312G>C (GJB4) XP_011538981.1:p.Lys104Asn
XR_947179.1:n.1002-18117C>G
XM_011540679.2:c.312G>C (GJB4) XP_011538981.1:p.Lys104Asn
XR_001737967.1:n.1023+36805C>G
NM_153212.3:c.312G>C (GJB4) MANE Select NP_694944.1:p.Lys104Asn
Search 100 bp 5'
Search 100 bp 3'