Canonical Allele Identifier: CA339323234
Gene: GJA4 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.35260100G>C (hg19) chr1:g.34794499G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34794499G>C , CM000663.2:g.34794499G>C GRCh38
NC_000001.10:g.35260100G>C , CM000663.1:g.35260100G>C GRCh37
NC_000001.9:g.35032687G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342280.5:c.286G>C (GJA4) MANE Select ENSP00000343676.4:p.Val96Leu
ENST00000342280.4:c.286G>C (GJA4) ENSP00000343676.4:p.Val96Leu
ENST00000426886.1:c.207+61272C>G (SMIM12) ENSP00000429902.1:n.207+61272C>G
ENST00000450137.1:c.286G>C (GJA4) ENSP00000409186.1:p.Val96Leu
NM_002060.2:c.286G>C (GJA4) NP_002051.2:p.Val96Leu
XM_005270750.1:c.286G>C (GJA4) XP_005270807.1:p.Val96Leu
XR_947179.1:n.1001+3872C>G
XM_005270750.2:c.286G>C (GJA4) XP_005270807.1:p.Val96Leu
XM_017001043.2:c.286G>C (GJA4) XP_016856532.1:p.Val96Leu
XR_001737967.1:n.1023+3872C>G
NM_002060.3:c.286G>C (GJA4) MANE Select NP_002051.2:p.Val96Leu
Search 100 bp 5'
Search 100 bp 3'