Canonical Allele Identifier: CA10641617
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 315663
ClinVar RCV Id: RCV000270473 RCV000310387
dbSNP Id: rs750686235
gnomAD v2: 15-35081480-C-A
gnomAD v3: 15-34789279-C-A
gnomAD v4: 15-34789279-C-A
MyVariant Identifiers: chr15:g.35081480C>A (hg19) chr15:g.34789279C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789279C>A , CM000677.2:g.34789279C>A GRCh38
NC_000015.9:g.35081480C>A , CM000677.1:g.35081480C>A GRCh37
NC_000015.8:g.32868772C>A NCBI36
NG_007553.1:g.11448G>T , LRG_388:g.11448G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*1133G>T (ACTC1) ENSP00000290378.4:n.*1133G>T
NM_005159.4:c.*1133G>T , LRG_388t1:c.*1133G>T (ACTC1) NP_005150.1:n.*1133G>T
NR_120329.1:n.299+11848C>A (GJD2-DT)
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