Canonical Allele Identifier: CA10645778
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 315698
ClinVar RCV Id: RCV000295915 RCV000330984 RCV000334492 RCV000387883 RCV000406943
dbSNP Id: rs886051088
gnomAD v4: 15-34790165-C-T
MyVariant Identifiers: chr15:g.35082366C>T (hg19) chr15:g.34790165C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790165C>T , CM000677.2:g.34790165C>T GRCh38
NC_000015.9:g.35082366C>T , CM000677.1:g.35082366C>T GRCh37
NC_000015.8:g.32869658C>T NCBI36
NG_007553.1:g.10562G>A , LRG_388:g.10562G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.2281G>A (ACTC1)
ENST00000290378.4:c.*247G>A (ACTC1) ENSP00000290378.4:n.*247G>A
NM_005159.4:c.*247G>A , LRG_388t1:c.*247G>A (ACTC1) NP_005150.1:n.*247G>A
NR_120329.1:n.299+12734C>T (GJD2-DT)
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