Canonical Allele Identifier: CA268658824
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 888092
ClinVar RCV Id: RCV001121208 RCV001121209 RCV002275289
dbSNP Id: rs189725849
gnomAD v2: 15-35081351-C-G
gnomAD v3: 15-34789150-C-G
gnomAD v4: 15-34789150-C-G
MyVariant Identifiers: chr15:g.35081351C>G (hg19) chr15:g.34789150C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789150C>G , CM000677.2:g.34789150C>G GRCh38
NC_000015.9:g.35081351C>G , CM000677.1:g.35081351C>G GRCh37
NC_000015.8:g.32868643C>G NCBI36
NG_007553.1:g.11577G>C , LRG_388:g.11577G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*1262G>C (ACTC1) ENSP00000290378.4:n.*1262G>C
NM_005159.4:c.*1262G>C , LRG_388t1:c.*1262G>C (ACTC1) NP_005150.1:n.*1262G>C
NR_120329.1:n.299+11719C>G (GJD2-DT)
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