Canonical Allele Identifier: CA10646868
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 315696
ClinVar RCV Id: RCV000263874 RCV000266940 RCV000302676 RCV000324455 RCV000359293
dbSNP Id: rs886051087
gnomAD v4: 15-34790128-C-T
MyVariant Identifiers: chr15:g.35082329C>T (hg19) chr15:g.34790128C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790128C>T , CM000677.2:g.34790128C>T GRCh38
NC_000015.9:g.35082329C>T , CM000677.1:g.35082329C>T GRCh37
NC_000015.8:g.32869621C>T NCBI36
NG_007553.1:g.10599G>A , LRG_388:g.10599G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.2318G>A (ACTC1)
ENST00000290378.4:c.*284G>A (ACTC1) ENSP00000290378.4:n.*284G>A
NM_005159.4:c.*284G>A , LRG_388t1:c.*284G>A (ACTC1) NP_005150.1:n.*284G>A
NR_120329.1:n.299+12697C>T (GJD2-DT)
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