Canonical Allele Identifier: CA712313118

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1388589285
• gnomAD v3: 15-34788544-A-G
• gnomAD v4: 15-34788544-A-G
• MyVariant Identifiers: chr15:g.35080745A>G (hg19) ; chr15:g.34788544A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34788544A>G , CM000677.2:g.34788544A>G	GRCh38
NC_000015.9:g.35080745A>G , CM000677.1:g.35080745A>G	GRCh37
NC_000015.8:g.32868037A>G	NCBI36
NG_007553.1:g.12183T>C , LRG_388:g.12183T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290378.4:c.*1868T>C (ACTC1)	ENSP00000290378.4:n.*1868T>C
NM_005159.4:c.*1868T>C , LRG_388t1:c.*1868T>C (ACTC1)	NP_005150.1:n.*1868T>C
NR_120329.1:n.299+11113A>G (GJD2-DT)