Canonical Allele Identifier: CA10646857

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 315682
• ClinVar RCV Id: RCV000292845 ; RCV000346550 ; RCV002292521
• dbSNP Id: rs868013105
• gnomAD v2: 15-35081876-G-A
• gnomAD v3: 15-34789675-G-A
• gnomAD v4: 15-34789675-G-A
• MyVariant Identifiers: chr15:g.35081876G>A (hg19) ; chr15:g.34789675G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34789675G>A , CM000677.2:g.34789675G>A	GRCh38
NC_000015.9:g.35081876G>A , CM000677.1:g.35081876G>A	GRCh37
NC_000015.8:g.32869168G>A	NCBI36
NG_007553.1:g.11052C>T , LRG_388:g.11052C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290378.4:c.*737C>T (ACTC1)	ENSP00000290378.4:n.*737C>T
NM_005159.4:c.*737C>T , LRG_388t1:c.*737C>T (ACTC1)	NP_005150.1:n.*737C>T
NR_120329.1:n.299+12244G>A (GJD2-DT)