Canonical Allele Identifier: CA10645747
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.34789373C>T
GRCh37 chr15:g.35081574C>T
gnomAD v2:
15:35081574 C / T
gnomAD v3:
15:34789373 C / T
gnomAD v4:
chr15-34789373-C-T
Joint Max Group AF 0.72258513 (NFE)
Genomes Max Group AF 0.72426158 (NFE)
Exomes Max Group AF 0.68553795 (NFE)
ClinVar RCV:
RCV000317383
RCV000379143
ClinVar Variation:
315668
dbSNP:
589759
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789373C>T , CM000677.2:g.34789373C>T GRCh38
NC_000015.9:g.35081574C>T , CM000677.1:g.35081574C>T GRCh37
NC_000015.8:g.32868866C>T NCBI36
NG_007553.1:g.11354G>A , LRG_388:g.11354G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*1039G>A (ACTC1) ENSP00000290378.4:n.*1039G>A
NM_005159.4:c.*1039G>A , LRG_388t1:c.*1039G>A (ACTC1) NP_005150.1:n.*1039G>A
NR_120329.1:n.299+11942C>T (GJD2-DT)
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