Canonical Allele Identifier: CA10635862
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 315674
ClinVar RCV Id: RCV000340227 RCV000338634
dbSNP Id: rs80139141
gnomAD v2: 15-35081745-A-C
gnomAD v3: 15-34789544-A-C
gnomAD v4: 15-34789544-A-C
MyVariant Identifiers: chr15:g.35081745A>C (hg19) chr15:g.34789544A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789544A>C , CM000677.2:g.34789544A>C GRCh38
NC_000015.9:g.35081745A>C , CM000677.1:g.35081745A>C GRCh37
NC_000015.8:g.32869037A>C NCBI36
NG_007553.1:g.11183T>G , LRG_388:g.11183T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*868T>G (ACTC1) ENSP00000290378.4:n.*868T>G
NM_005159.4:c.*868T>G , LRG_388t1:c.*868T>G (ACTC1) NP_005150.1:n.*868T>G
NR_120329.1:n.299+12113A>C (GJD2-DT)
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