Canonical Allele Identifier: CA041758

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 885083
• ClinVar RCV Id: RCV001116487 ; RCV001116486 ; RCV002482216
• dbSNP Id: rs3729758
• ExAC: 15:35082574 G / A
• gnomAD v2: 15-35082574-G-A
• gnomAD v3: 15-34790373-G-A
• gnomAD v4: 15-34790373-G-A
• MyVariant Identifiers: chr15:g.35082574G>A (hg19) ; chr15:g.34790373G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790373G>A , CM000677.2:g.34790373G>A	GRCh38
NC_000015.9:g.35082574G>A , CM000677.1:g.35082574G>A	GRCh37
NC_000015.8:g.32869866G>A	NCBI36
NG_007553.1:g.10354C>T , LRG_388:g.10354C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.2073C>T (ACTC1)
ENST00000290378.6:c.*39C>T (ACTC1) MANE Select	ENSP00000290378.4:n.*39C>T
ENST00000647798.1:n.1267C>T (ACTC1)
ENST00000650163.1:n.1253C>T (ACTC1)
ENST00000290378.4:c.*39C>T (ACTC1)	ENSP00000290378.4:n.*39C>T
NM_005159.4:c.*39C>T , LRG_388t1:c.*39C>T (ACTC1)	NP_005150.1:n.*39C>T
NR_120329.1:n.299+12942G>A (GJD2-DT)
NM_005159.5:c.*39C>T (ACTC1) MANE Select	NP_005150.1:n.*39C>T