Canonical Allele Identifier: CA1145013249
Gene: GJA4 HGNC NCBI
SMIM12 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34794076C= , CM000663.2:g.34794076C= GRCh38
NC_000001.10:g.35259677C= , CM000663.1:g.35259677C= GRCh37
NC_000001.9:g.35032264C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342280.5:c.-17-121C= (GJA4) MANE Select ENSP00000343676.4:n.-17-121C=
ENST00000342280.4:c.-17-121C= (GJA4) ENSP00000343676.4:n.-17-121C=
ENST00000426886.1:c.207+61695G= (SMIM12) ENSP00000429902.1:n.207+61695G=
ENST00000450137.1:c.-112-26C= (GJA4) ENSP00000409186.1:n.-112-26C=
NM_002060.2:c.-17-121C= (GJA4) NP_002051.2:n.-17-121C=
XM_005270750.1:c.-112-26C= (GJA4) XP_005270807.1:n.-112-26C=
XR_947179.1:n.1001+4295G=
XM_005270750.2:c.-112-26C= (GJA4) XP_005270807.1:n.-112-26C=
XM_017001043.2:c.-17-121C= (GJA4) XP_016856532.1:n.-17-121C=
XR_001737967.1:n.1023+4295G=
NM_002060.3:c.-17-121C= (GJA4) MANE Select NP_002051.2:n.-17-121C=
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