Canonical Allele Identifier: CA2169207437

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 3224603
• ClinVar RCV Id: RCV004521294
• dbSNP Id: rs1891716802

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792086T>C , CM000677.2:g.34792086T>C	GRCh38
NC_000015.9:g.35084287T>C , CM000677.1:g.35084287T>C	GRCh37
NC_000015.8:g.32871579T>C	NCBI36
NG_007553.1:g.8641A>G , LRG_388:g.8641A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.918A>G (ACTC1)
ENST00000290378.6:c.808+4A>G (ACTC1) MANE Select	ENSP00000290378.4:n.808+4A>G
ENST00000647798.1:n.902+4A>G (ACTC1)
ENST00000650163.1:n.888+4A>G (ACTC1)
ENST00000290378.4:c.808+4A>G (ACTC1)	ENSP00000290378.4:n.808+4A>G
ENST00000557860.1:n.498+4A>G (ACTC1)
ENST00000560563.1:n.311A>G (ACTC1)
NM_005159.4:c.808+4A>G , LRG_388t1:c.808+4A>G (ACTC1)	NP_005150.1:n.808+4A>G
NR_120329.1:n.299+14655T>C (GJD2-DT)
NM_005159.5:c.808+4A>G (ACTC1) MANE Select	NP_005150.1:n.808+4A>G