Canonical Allele Identifier: CA489655773
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 2928750
ClinVar RCV Id: RCV003789524
dbSNP Id: rs141322728
gnomAD v2: 15-35085600-G-C
gnomAD v3: 15-34793399-G-C
gnomAD v4: 15-34793399-G-C
MyVariant Identifiers: chr15:g.35085600G>C (hg19) chr15:g.34793399G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793399G>C , CM000677.2:g.34793399G>C GRCh38
NC_000015.9:g.35085600G>C , CM000677.1:g.35085600G>C GRCh37
NC_000015.8:g.32872892G>C NCBI36
NG_007553.1:g.7328C>G , LRG_388:g.7328C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.406C>G (ACTC1)
ENST00000290378.6:c.300C>G (ACTC1) MANE Select ENSP00000290378.4:p.Pro100=
ENST00000647798.1:n.447C>G (ACTC1)
ENST00000648556.1:n.457C>G (ACTC1)
ENST00000650163.1:n.380C>G (ACTC1)
ENST00000290378.4:c.300C>G (ACTC1) ENSP00000290378.4:p.Pro100=
NM_005159.4:c.300C>G , LRG_388t1:c.300C>G (ACTC1) NP_005150.1:p.Pro100=
NR_120329.1:n.299+15968G>C (GJD2-DT)
NM_005159.5:c.300C>G (ACTC1) MANE Select NP_005150.1:p.Pro100=
Search 100 bp 5'
Search 100 bp 3'