Canonical Allele Identifier: CA019648
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
ClinVar RCV:
RCV000157802
RCV000245634
RCV000770507
RCV001850192
RCV003998343
ClinVar Variation:
180774
dbSNP:
730880407
gnomAD v2:
15:35082635 A / G
gnomAD v4:
chr15-34790434-A-G
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
MyVariant.info:
GRCh38 chr15:g.34790434A>G
GRCh37 chr15:g.35082635A>G
Revel Score:
ENST00000290378 (MANE Select) 0.936
ENST00000544062 0.936
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790434A>G , CM000677.2:g.34790434A>G GRCh38
NC_000015.9:g.35082635A>G , CM000677.1:g.35082635A>G GRCh37
NC_000015.8:g.32869927A>G NCBI36
NG_007553.1:g.10293T>C , LRG_388:g.10293T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.2012T>C (ACTC1)
ENST00000290378.6:c.1112T>C (ACTC1) MANE Select ENSP00000290378.4:p.Ile371Thr
ENST00000647798.1:n.1206T>C (ACTC1)
ENST00000650163.1:n.1192T>C (ACTC1)
ENST00000290378.4:c.1112T>C (ACTC1) ENSP00000290378.4:p.Ile371Thr
NM_005159.4:c.1112T>C , LRG_388t1:c.1112T>C (ACTC1) NP_005150.1:p.Ile371Thr
NR_120329.1:n.299+13003A>G (GJD2-DT)
NM_005159.5:c.1112T>C (ACTC1) MANE Select NP_005150.1:p.Ile371Thr
Search 100 bp 5'
Search 100 bp 3'