Canonical Allele Identifier: CA2644771022
Gene: GJA4 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

gnomAD v4: 1-34794038-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34794038T>A , CM000663.2:g.34794038T>A GRCh38
NC_000001.10:g.35259639T>A , CM000663.1:g.35259639T>A GRCh37
NC_000001.9:g.35032226T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342280.5:c.-17-159T>A (GJA4) MANE Select ENSP00000343676.4:n.-17-159T>A
ENST00000342280.4:c.-17-159T>A (GJA4) ENSP00000343676.4:n.-17-159T>A
ENST00000426886.1:c.207+61733A>T (SMIM12) ENSP00000429902.1:n.207+61733A>T
ENST00000450137.1:c.-112-64T>A (GJA4) ENSP00000409186.1:n.-112-64T>A
NM_002060.2:c.-17-159T>A (GJA4) NP_002051.2:n.-17-159T>A
XM_005270750.1:c.-112-64T>A (GJA4) XP_005270807.1:n.-112-64T>A
XR_947179.1:n.1001+4333A>T
XM_005270750.2:c.-112-64T>A (GJA4) XP_005270807.1:n.-112-64T>A
XM_017001043.2:c.-17-159T>A (GJA4) XP_016856532.1:n.-17-159T>A
XR_001737967.1:n.1023+4333A>T
NM_002060.3:c.-17-159T>A (GJA4) MANE Select NP_002051.2:n.-17-159T>A
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