Canonical Allele Identifier: CA10645716
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 315658
ClinVar RCV Id: RCV000261196 RCV000353495
dbSNP Id: rs886051067
gnomAD v2: 15-35081142-C-T
gnomAD v3: 15-34788941-C-T
gnomAD v4: 15-34788941-C-T
MyVariant Identifiers: chr15:g.35081142C>T (hg19) chr15:g.34788941C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34788941C>T , CM000677.2:g.34788941C>T GRCh38
NC_000015.9:g.35081142C>T , CM000677.1:g.35081142C>T GRCh37
NC_000015.8:g.32868434C>T NCBI36
NG_007553.1:g.11786G>A , LRG_388:g.11786G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.4:c.*1471G>A (ACTC1) ENSP00000290378.4:n.*1471G>A
NM_005159.4:c.*1471G>A , LRG_388t1:c.*1471G>A (ACTC1) NP_005150.1:n.*1471G>A
NR_120329.1:n.299+11510C>T (GJD2-DT)
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