Canonical Allele Identifier: CA041427
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 516876
ClinVar RCV Id: RCV000601921 RCV000862048 RCV001189423 RCV002448905 RCV004002617
dbSNP Id: rs373261583
ExAC: 15:35085654 G / A
gnomAD v2: 15-35085654-G-A
gnomAD v3: 15-34793453-G-A
gnomAD v4: 15-34793453-G-A
COSMIC: COSM1323237
MyVariant Identifiers: chr15:g.35085654G>A (hg19) chr15:g.34793453G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793453G>A , CM000677.2:g.34793453G>A GRCh38
NC_000015.9:g.35085654G>A , CM000677.1:g.35085654G>A GRCh37
NC_000015.8:g.32872946G>A NCBI36
NG_007553.1:g.7274C>T , LRG_388:g.7274C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.352C>T (ACTC1)
ENST00000290378.6:c.246C>T (ACTC1) MANE Select ENSP00000290378.4:p.Asp82=
ENST00000647798.1:n.393C>T (ACTC1)
ENST00000648556.1:n.403C>T (ACTC1)
ENST00000650163.1:n.326C>T (ACTC1)
ENST00000290378.4:c.246C>T (ACTC1) ENSP00000290378.4:p.Asp82=
NM_005159.4:c.246C>T , LRG_388t1:c.246C>T (ACTC1) NP_005150.1:p.Asp82=
NR_120329.1:n.299+16022G>A (GJD2-DT)
NM_005159.5:c.246C>T (ACTC1) MANE Select NP_005150.1:p.Asp82=
Search 100 bp 5'
Search 100 bp 3'