Canonical Allele Identifier: CA1162036856
Gene: GJA4 HGNC NCBI
SMIM12 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34794167G= , CM000663.2:g.34794167G= GRCh38
NC_000001.10:g.35259768G= , CM000663.1:g.35259768G= GRCh37
NC_000001.9:g.35032355G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342280.5:c.-17-30G= (GJA4) MANE Select ENSP00000343676.4:n.-17-30G=
ENST00000342280.4:c.-17-30G= (GJA4) ENSP00000343676.4:n.-17-30G=
ENST00000426886.1:c.207+61604C= (SMIM12) ENSP00000429902.1:n.207+61604C=
ENST00000450137.1:c.-47G= (GJA4) ENSP00000409186.1:n.-47G=
NM_002060.2:c.-17-30G= (GJA4) NP_002051.2:n.-17-30G=
XM_005270750.1:c.-47G= (GJA4) XP_005270807.1:n.-47G=
XR_947179.1:n.1001+4204C=
XM_005270750.2:c.-47G= (GJA4) XP_005270807.1:n.-47G=
XM_017001043.2:c.-17-30G= (GJA4) XP_016856532.1:n.-17-30G=
XR_001737967.1:n.1023+4204C=
NM_002060.3:c.-17-30G= (GJA4) MANE Select NP_002051.2:n.-17-30G=
Search 100 bp 5'
Search 100 bp 3'