Canonical Allele Identifier: CA755153
Gene: GJA4 HGNC NCBI
SMIM12 HGNC NCBI
COSMIC:
COSM4967511 (not active)
MyVariant.info:
GRCh38 chr1:g.34795168C>T
GRCh37 chr1:g.35260769C>T
Revel Score:
ENST00000342280 (MANE Select) 0.239
gnomAD v2:
1:35260769 C / T
gnomAD v3:
1:34795168 C / T
gnomAD v4:
chr1-34795168-C-T
Joint Max Group AF 0.53603567 (AFR)
Genomes Max Group AF 0.53368131 (AFR)
Exomes Max Group AF 0.5348883 (AFR)
dbSNP:
1764391
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34795168C>T , CM000663.2:g.34795168C>T GRCh38
NC_000001.10:g.35260769C>T , CM000663.1:g.35260769C>T GRCh37
NC_000001.9:g.35033356C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342280.5:c.955C>T (GJA4) MANE Select ENSP00000343676.4:p.Pro319Ser
ENST00000342280.4:c.955C>T (GJA4) ENSP00000343676.4:p.Pro319Ser
ENST00000426886.1:c.207+60603G>A (SMIM12) ENSP00000429902.1:n.207+60603G>A
NM_002060.2:c.955C>T (GJA4) NP_002051.2:p.Pro319Ser
XM_005270750.1:c.955C>T (GJA4) XP_005270807.1:p.Pro319Ser
XR_947179.1:n.1001+3203G>A
XM_005270750.2:c.955C>T (GJA4) XP_005270807.1:p.Pro319Ser
XM_017001043.2:c.955C>T (GJA4) XP_016856532.1:p.Pro319Ser
XR_001737967.1:n.1023+3203G>A
NM_002060.3:c.955C>T (GJA4) MANE Select NP_002051.2:p.Pro319Ser
Search 100 bp 5'
Search 100 bp 3'