Canonical Allele Identifier: CA268659766
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 888204
ClinVar RCV Id: RCV001121392 RCV001121393 RCV002480492
dbSNP Id: rs1370154
gnomAD v2: 15-35082225-C-G
gnomAD v3: 15-34790024-C-G
gnomAD v4: 15-34790024-C-G
MyVariant Identifiers: chr15:g.35082225C>G (hg19) chr15:g.34790024C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790024C>G , CM000677.2:g.34790024C>G GRCh38
NC_000015.9:g.35082225C>G , CM000677.1:g.35082225C>G GRCh37
NC_000015.8:g.32869517C>G NCBI36
NG_007553.1:g.10703G>C , LRG_388:g.10703G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*388G>C (ACTC1) ENSP00000290378.4:n.*388G>C
NM_005159.4:c.*388G>C , LRG_388t1:c.*388G>C (ACTC1) NP_005150.1:n.*388G>C
NR_120329.1:n.299+12593C>G (GJD2-DT)
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