Canonical Allele Identifier: CA10646860

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 315685
• ClinVar RCV Id: RCV000290795 ; RCV000296547 ; RCV000331829 ; RCV000384231 ; RCV000386388
• dbSNP Id: rs886051079
• gnomAD v4: 15-34789738-G-T
• MyVariant Identifiers: chr15:g.35081939G>T (hg19) ; chr15:g.34789738G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34789738G>T , CM000677.2:g.34789738G>T	GRCh38
NC_000015.9:g.35081939G>T , CM000677.1:g.35081939G>T	GRCh37
NC_000015.8:g.32869231G>T	NCBI36
NG_007553.1:g.10989C>A , LRG_388:g.10989C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000290378.4:c.*674C>A (ACTC1)	ENSP00000290378.4:n.*674C>A
NM_005159.4:c.*674C>A , LRG_388t1:c.*674C>A (ACTC1)	NP_005150.1:n.*674C>A
NR_120329.1:n.299+12307G>T (GJD2-DT)