Canonical Allele Identifier: CA041972
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 3069473
ClinVar RCV Id: RCV004008017
dbSNP Id: rs768363857
ExAC: 15:35084777 G / C
gnomAD v2: 15-35084777-G-C
MyVariant Identifiers: chr15:g.35084777G>C (hg19) chr15:g.34792576G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792576G>C , CM000677.2:g.34792576G>C GRCh38
NC_000015.9:g.35084777G>C , CM000677.1:g.35084777G>C GRCh37
NC_000015.8:g.32872069G>C NCBI36
NG_007553.1:g.8151C>G , LRG_388:g.8151C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.561-7C>G (ACTC1)
ENST00000290378.6:c.455-7C>G (ACTC1) MANE Select ENSP00000290378.4:n.455-7C>G
ENST00000647798.1:n.549-7C>G (ACTC1)
ENST00000648556.1:n.612-7C>G (ACTC1)
ENST00000650163.1:n.535-7C>G (ACTC1)
ENST00000290378.4:c.455-7C>G (ACTC1) ENSP00000290378.4:n.455-7C>G
ENST00000557860.1:n.145-7C>G (ACTC1)
NM_005159.4:c.455-7C>G , LRG_388t1:c.455-7C>G (ACTC1) NP_005150.1:n.455-7C>G
NR_120329.1:n.299+15145G>C (GJD2-DT)
NM_005159.5:c.455-7C>G (ACTC1) MANE Select NP_005150.1:n.455-7C>G
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