Canonical Allele Identifier: CA043037
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 1141917
ClinVar RCV Id: RCV001479512 RCV004007146
dbSNP Id: rs778914066
ExAC: 15:35083363 A / G
gnomAD v2: 15-35083363-A-G
gnomAD v3: 15-34791162-A-G
gnomAD v4: 15-34791162-A-G
MyVariant Identifiers: chr15:g.35083363A>G (hg19) chr15:g.34791162A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791162A>G , CM000677.2:g.34791162A>G GRCh38
NC_000015.9:g.35083363A>G , CM000677.1:g.35083363A>G GRCh37
NC_000015.8:g.32870655A>G NCBI36
NG_007553.1:g.9565T>C , LRG_388:g.9565T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1842T>C (ACTC1)
ENST00000290378.6:c.942T>C (ACTC1) MANE Select ENSP00000290378.4:p.Arg314=
ENST00000647798.1:n.1036T>C (ACTC1)
ENST00000650163.1:n.1022T>C (ACTC1)
ENST00000290378.4:c.942T>C (ACTC1) ENSP00000290378.4:p.Arg314=
ENST00000557860.1:n.632T>C (ACTC1)
NM_005159.4:c.942T>C , LRG_388t1:c.942T>C (ACTC1) NP_005150.1:p.Arg314=
NR_120329.1:n.299+13731A>G (GJD2-DT)
NM_005159.5:c.942T>C (ACTC1) MANE Select NP_005150.1:p.Arg314=
Search 100 bp 5'
Search 100 bp 3'