Canonical Allele Identifier: CA268659539

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs541805662
• gnomAD v3: 15-34789778-G-C
• gnomAD v4: 15-34789778-G-C
• MyVariant Identifiers: chr15:g.35081979G>C (hg19) ; chr15:g.34789778G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34789778G>C , CM000677.2:g.34789778G>C	GRCh38
NC_000015.9:g.35081979G>C , CM000677.1:g.35081979G>C	GRCh37
NC_000015.8:g.32869271G>C	NCBI36
NG_007553.1:g.10949C>G , LRG_388:g.10949C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290378.4:c.*634C>G (ACTC1)	ENSP00000290378.4:n.*634C>G
NM_005159.4:c.*634C>G , LRG_388t1:c.*634C>G (ACTC1)	NP_005150.1:n.*634C>G
NR_120329.1:n.299+12347G>C (GJD2-DT)