Canonical Allele Identifier: CA10646834

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 315670
• ClinVar RCV Id: RCV000312101 ; RCV000351835 ; RCV000355267 ; RCV000398019 ; RCV000406611
• dbSNP Id: rs549986676
• gnomAD v2: 15-35081630-G-A
• gnomAD v3: 15-34789429-G-A
• gnomAD v4: 15-34789429-G-A
• MyVariant Identifiers: chr15:g.35081630G>A (hg19) ; chr15:g.34789429G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34789429G>A , CM000677.2:g.34789429G>A	GRCh38
NC_000015.9:g.35081630G>A , CM000677.1:g.35081630G>A	GRCh37
NC_000015.8:g.32868922G>A	NCBI36
NG_007553.1:g.11298C>T , LRG_388:g.11298C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000290378.4:c.*983C>T (ACTC1)	ENSP00000290378.4:n.*983C>T
NM_005159.4:c.*983C>T , LRG_388t1:c.*983C>T (ACTC1)	NP_005150.1:n.*983C>T
NR_120329.1:n.299+11998G>A (GJD2-DT)