Canonical Allele Identifier: CA339320157
Gene: GJA4 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

ClinVar Variation Id: 2326308
ClinVar RCV Id: RCV004167516
dbSNP Id: rs1259010057
gnomAD v2: 1-35259867-C-T
gnomAD v3: 1-34794266-C-T
gnomAD v4: 1-34794266-C-T
MyVariant Identifiers: chr1:g.35259867C>T (hg19) chr1:g.34794266C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34794266C>T , CM000663.2:g.34794266C>T GRCh38
NC_000001.10:g.35259867C>T , CM000663.1:g.35259867C>T GRCh37
NC_000001.9:g.35032454C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342280.5:c.53C>T (GJA4) MANE Select ENSP00000343676.4:p.Ser18Leu
ENST00000342280.4:c.53C>T (GJA4) ENSP00000343676.4:p.Ser18Leu
ENST00000426886.1:c.207+61505G>A (SMIM12) ENSP00000429902.1:n.207+61505G>A
ENST00000450137.1:c.53C>T (GJA4) ENSP00000409186.1:p.Ser18Leu
NM_002060.2:c.53C>T (GJA4) NP_002051.2:p.Ser18Leu
XM_005270750.1:c.53C>T (GJA4) XP_005270807.1:p.Ser18Leu
XR_947179.1:n.1001+4105G>A
XM_005270750.2:c.53C>T (GJA4) XP_005270807.1:p.Ser18Leu
XM_017001043.2:c.53C>T (GJA4) XP_016856532.1:p.Ser18Leu
XR_001737967.1:n.1023+4105G>A
NM_002060.3:c.53C>T (GJA4) MANE Select NP_002051.2:p.Ser18Leu
Search 100 bp 5'
Search 100 bp 3'