Canonical Allele Identifier: CA10635845

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 315647
• ClinVar RCV Id: RCV000273257 ; RCV000377089
• dbSNP Id: rs604689
• gnomAD v2: 15-35080523-T-C
• gnomAD v3: 15-34788322-T-C
• gnomAD v4: 15-34788322-T-C
• MyVariant Identifiers: chr15:g.35080523T>C (hg19) ; chr15:g.34788322T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34788322T>C , CM000677.2:g.34788322T>C	GRCh38
NC_000015.9:g.35080523T>C , CM000677.1:g.35080523T>C	GRCh37
NC_000015.8:g.32867815T>C	NCBI36
NG_007553.1:g.12405A>G , LRG_388:g.12405A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000290378.4:c.*2090A>G (ACTC1)	ENSP00000290378.4:n.*2090A>G
NM_005159.4:c.*2090A>G , LRG_388t1:c.*2090A>G (ACTC1)	NP_005150.1:n.*2090A>G
NR_120329.1:n.299+10891T>C (GJD2-DT)