Canonical Allele Identifier: CA268659390
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 886865
ClinVar RCV Id: RCV001119284 RCV001119285
dbSNP Id: rs79104010
gnomAD v2: 15-35081757-C-T
gnomAD v3: 15-34789556-C-T
gnomAD v4: 15-34789556-C-T
MyVariant Identifiers: chr15:g.35081757C>T (hg19) chr15:g.34789556C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789556C>T , CM000677.2:g.34789556C>T GRCh38
NC_000015.9:g.35081757C>T , CM000677.1:g.35081757C>T GRCh37
NC_000015.8:g.32869049C>T NCBI36
NG_007553.1:g.11171G>A , LRG_388:g.11171G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*856G>A (ACTC1) ENSP00000290378.4:n.*856G>A
NM_005159.4:c.*856G>A , LRG_388t1:c.*856G>A (ACTC1) NP_005150.1:n.*856G>A
NR_120329.1:n.299+12125C>T (GJD2-DT)
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