Canonical Allele Identifier: CA042023

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 704062
• ClinVar RCV Id: RCV001458177 ; RCV002346017 ; RCV003994143 ; RCV004003092 ; RCV001179094
• dbSNP Id: rs370082904
• ExAC: 15:35084727 G / A
• gnomAD v2: 15-35084727-G-A
• gnomAD v3: 15-34792526-G-A
• gnomAD v4: 15-34792526-G-A
• MyVariant Identifiers: chr15:g.35084727G>A (hg19) ; chr15:g.34792526G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792526G>A , CM000677.2:g.34792526G>A	GRCh38
NC_000015.9:g.35084727G>A , CM000677.1:g.35084727G>A	GRCh37
NC_000015.8:g.32872019G>A	NCBI36
NG_007553.1:g.8201C>T , LRG_388:g.8201C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.604C>T (ACTC1)
ENST00000290378.6:c.498C>T (ACTC1) MANE Select	ENSP00000290378.4:p.Pro166=
ENST00000647798.1:n.592C>T (ACTC1)
ENST00000648556.1:n.655C>T (ACTC1)
ENST00000650163.1:n.578C>T (ACTC1)
ENST00000290378.4:c.498C>T (ACTC1)	ENSP00000290378.4:p.Pro166=
ENST00000557860.1:n.188C>T (ACTC1)
NM_005159.4:c.498C>T , LRG_388t1:c.498C>T (ACTC1)	NP_005150.1:p.Pro166=
NR_120329.1:n.299+15095G>A (GJD2-DT)
NM_005159.5:c.498C>T (ACTC1) MANE Select	NP_005150.1:p.Pro166=