Canonical Allele Identifier: CA14129744
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 1292062
ClinVar RCV Id: RCV001716995
dbSNP Id: rs3729755

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792014C>G , CM000677.2:g.34792014C>G GRCh38
NC_000015.9:g.35084215C>G , CM000677.1:g.35084215C>G GRCh37
NC_000015.8:g.32871507C>G NCBI36
NG_007553.1:g.8713G>C , LRG_388:g.8713G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.990G>C (ACTC1)
ENST00000290378.6:c.808+76G>C (ACTC1) MANE Select ENSP00000290378.4:n.808+76G>C
ENST00000647798.1:n.902+76G>C (ACTC1)
ENST00000650163.1:n.888+76G>C (ACTC1)
ENST00000290378.4:c.808+76G>C (ACTC1) ENSP00000290378.4:n.808+76G>C
ENST00000557860.1:n.498+76G>C (ACTC1)
ENST00000560563.1:n.383G>C (ACTC1)
NM_005159.4:c.808+76G>C , LRG_388t1:c.808+76G>C (ACTC1) NP_005150.1:n.808+76G>C
NR_120329.1:n.299+14583C>G (GJD2-DT)
NM_005159.5:c.808+76G>C (ACTC1) MANE Select NP_005150.1:n.808+76G>C