Canonical Allele Identifier: CA489655392
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 509022
ClinVar RCV Id: RCV000611399
dbSNP Id: rs199947846

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792265G>T , CM000677.2:g.34792265G>T GRCh38
NC_000015.9:g.35084466G>T , CM000677.1:g.35084466G>T GRCh37
NC_000015.8:g.32871758G>T NCBI36
NG_007553.1:g.8462C>A , LRG_388:g.8462C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.739C>A (ACTC1)
ENST00000290378.6:c.633C>A (ACTC1) MANE Select ENSP00000290378.4:p.Val211=
ENST00000647798.1:n.727C>A (ACTC1)
ENST00000648556.1:n.790C>A (ACTC1)
ENST00000650163.1:n.713C>A (ACTC1)
ENST00000290378.4:c.633C>A (ACTC1) ENSP00000290378.4:p.Val211=
ENST00000557860.1:n.323C>A (ACTC1)
ENST00000560563.1:n.132C>A (ACTC1)
NM_005159.4:c.633C>A , LRG_388t1:c.633C>A (ACTC1) NP_005150.1:p.Val211=
NR_120329.1:n.299+14834G>T (GJD2-DT)
NM_005159.5:c.633C>A (ACTC1) MANE Select NP_005150.1:p.Val211=