Canonical Allele Identifier: CA1139663825
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 888093
ClinVar RCV Id: RCV001121210 RCV001121211
dbSNP Id: rs1891645041
gnomAD v4: 15-34789182-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789182G>A , CM000677.2:g.34789182G>A GRCh38
NC_000015.9:g.35081383G>A , CM000677.1:g.35081383G>A GRCh37
NC_000015.8:g.32868675G>A NCBI36
NG_007553.1:g.11545C>T , LRG_388:g.11545C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*1230C>T (ACTC1) ENSP00000290378.4:n.*1230C>T
NM_005159.4:c.*1230C>T , LRG_388t1:c.*1230C>T (ACTC1) NP_005150.1:n.*1230C>T
NR_120329.1:n.299+11751G>A (GJD2-DT)
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