Canonical Allele Identifier: CA1139663822
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 886745
ClinVar RCV Id: RCV001119107 RCV001119108
dbSNP Id: rs1595758879
gnomAD v4: 15-34788233-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34788233A>G , CM000677.2:g.34788233A>G GRCh38
NC_000015.9:g.35080434A>G , CM000677.1:g.35080434A>G GRCh37
NC_000015.8:g.32867726A>G NCBI36
NG_007553.1:g.12494T>C , LRG_388:g.12494T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.4:c.*2179T>C (ACTC1) ENSP00000290378.4:n.*2179T>C
NM_005159.4:c.*2179T>C , LRG_388t1:c.*2179T>C (ACTC1) NP_005150.1:n.*2179T>C
NR_120329.1:n.299+10802A>G (GJD2-DT)
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