Canonical Allele Identifier: CA268659821

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs547800928
• gnomAD v3: 15-34790076-T-C
• gnomAD v4: 15-34790076-T-C
• MyVariant Identifiers: chr15:g.35082277T>C (hg19) ; chr15:g.34790076T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790076T>C , CM000677.2:g.34790076T>C	GRCh38
NC_000015.9:g.35082277T>C , CM000677.1:g.35082277T>C	GRCh37
NC_000015.8:g.32869569T>C	NCBI36
NG_007553.1:g.10651A>G , LRG_388:g.10651A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290378.4:c.*336A>G (ACTC1)	ENSP00000290378.4:n.*336A>G
NM_005159.4:c.*336A>G , LRG_388t1:c.*336A>G (ACTC1)	NP_005150.1:n.*336A>G
NR_120329.1:n.299+12645T>C (GJD2-DT)