Canonical Allele Identifier: CA041605

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 772478
• ClinVar RCV Id: RCV000952047 ; RCV001182639 ; RCV002066304 ; RCV002434316 ; RCV003396559 ; RCV004004353
• dbSNP Id: rs141322728
• ExAC: 15:35085600 G / A
• gnomAD v2: 15-35085600-G-A
• gnomAD v3: 15-34793399-G-A
• gnomAD v4: 15-34793399-G-A
• MyVariant Identifiers: chr15:g.35085600G>A (hg19) ; chr15:g.34793399G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793399G>A , CM000677.2:g.34793399G>A	GRCh38
NC_000015.9:g.35085600G>A , CM000677.1:g.35085600G>A	GRCh37
NC_000015.8:g.32872892G>A	NCBI36
NG_007553.1:g.7328C>T , LRG_388:g.7328C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.406C>T (ACTC1)
ENST00000290378.6:c.300C>T (ACTC1) MANE Select	ENSP00000290378.4:p.Pro100=
ENST00000647798.1:n.447C>T (ACTC1)
ENST00000648556.1:n.457C>T (ACTC1)
ENST00000650163.1:n.380C>T (ACTC1)
ENST00000290378.4:c.300C>T (ACTC1)	ENSP00000290378.4:p.Pro100=
NM_005159.4:c.300C>T , LRG_388t1:c.300C>T (ACTC1)	NP_005150.1:p.Pro100=
NR_120329.1:n.299+15968G>A (GJD2-DT)
NM_005159.5:c.300C>T (ACTC1) MANE Select	NP_005150.1:p.Pro100=