Canonical Allele Identifier: CA268659635
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 886940
ClinVar RCV Id: RCV001119397 RCV001119398
dbSNP Id: rs563713498
gnomAD v2: 15-35082129-G-A
gnomAD v3: 15-34789928-G-A
gnomAD v4: 15-34789928-G-A
MyVariant Identifiers: chr15:g.35082129G>A (hg19) chr15:g.34789928G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789928G>A , CM000677.2:g.34789928G>A GRCh38
NC_000015.9:g.35082129G>A , CM000677.1:g.35082129G>A GRCh37
NC_000015.8:g.32869421G>A NCBI36
NG_007553.1:g.10799C>T , LRG_388:g.10799C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*484C>T (ACTC1) ENSP00000290378.4:n.*484C>T
NM_005159.4:c.*484C>T , LRG_388t1:c.*484C>T (ACTC1) NP_005150.1:n.*484C>T
NR_120329.1:n.299+12497G>A (GJD2-DT)
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