Canonical Allele Identifier: CA489655633
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 2447971
ClinVar RCV Id: RCV003168116 RCV003778963
dbSNP Id: rs1238372620
gnomAD v2: 15-35085462-A-G
gnomAD v4: 15-34793261-A-G
MyVariant Identifiers: chr15:g.35085462A>G (hg19) chr15:g.34793261A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793261A>G , CM000677.2:g.34793261A>G GRCh38
NC_000015.9:g.35085462A>G , CM000677.1:g.35085462A>G GRCh37
NC_000015.8:g.32872754A>G NCBI36
NG_007553.1:g.7466T>C , LRG_388:g.7466T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.544T>C (ACTC1)
ENST00000290378.6:c.438T>C (ACTC1) MANE Select ENSP00000290378.4:p.Ala146=
ENST00000647798.1:n.548+37T>C (ACTC1)
ENST00000648556.1:n.595T>C (ACTC1)
ENST00000650163.1:n.518T>C (ACTC1)
ENST00000290378.4:c.438T>C (ACTC1) ENSP00000290378.4:p.Ala146=
NM_005159.4:c.438T>C , LRG_388t1:c.438T>C (ACTC1) NP_005150.1:p.Ala146=
NR_120329.1:n.299+15830A>G (GJD2-DT)
NM_005159.5:c.438T>C (ACTC1) MANE Select NP_005150.1:p.Ala146=
Search 100 bp 5'
Search 100 bp 3'