Canonical Allele Identifier: CA042478
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 919733
ClinVar RCV Id: RCV001178049 RCV002555483 RCV003373006 RCV004006440
dbSNP Id: rs760269526
ExAC: 15:35084447 G / A
gnomAD v2: 15-35084447-G-A
gnomAD v3: 15-34792246-G-A
gnomAD v4: 15-34792246-G-A
MyVariant Identifiers: chr15:g.35084447G>A (hg19) chr15:g.34792246G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792246G>A , CM000677.2:g.34792246G>A GRCh38
NC_000015.9:g.35084447G>A , CM000677.1:g.35084447G>A GRCh37
NC_000015.8:g.32871739G>A NCBI36
NG_007553.1:g.8481C>T , LRG_388:g.8481C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.758C>T (ACTC1)
ENST00000290378.6:c.652C>T (ACTC1) MANE Select ENSP00000290378.4:p.Leu218=
ENST00000647798.1:n.746C>T (ACTC1)
ENST00000650163.1:n.732C>T (ACTC1)
ENST00000290378.4:c.652C>T (ACTC1) ENSP00000290378.4:p.Leu218=
ENST00000557860.1:n.342C>T (ACTC1)
ENST00000560563.1:n.151C>T (ACTC1)
NM_005159.4:c.652C>T , LRG_388t1:c.652C>T (ACTC1) NP_005150.1:p.Leu218=
NR_120329.1:n.299+14815G>A (GJD2-DT)
NM_005159.5:c.652C>T (ACTC1) MANE Select NP_005150.1:p.Leu218=
Search 100 bp 5'
Search 100 bp 3'