Canonical Allele Identifier: CA391630926

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 2945285
• ClinVar RCV Id: RCV003800939
• dbSNP Id: rs1566967472
• gnomAD v2: 15-35084647-T-C
• MyVariant Identifiers: chr15:g.35084647T>C (hg19) ; chr15:g.35084647_35084664delinsCTCATGAGGTAGTCAGTG (hg19) ; chr15:g.34792446T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792446T>C , CM000677.2:g.34792446T>C	GRCh38
NC_000015.9:g.35084647T>C , CM000677.1:g.35084647T>C	GRCh37
NC_000015.8:g.32871939T>C	NCBI36
NG_007553.1:g.8281A>G , LRG_388:g.8281A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.684A>G (ACTC1)
ENST00000290378.6:c.578A>G (ACTC1) MANE Select	ENSP00000290378.4:p.Lys193Arg
ENST00000647798.1:n.672A>G (ACTC1)
ENST00000648556.1:n.735A>G (ACTC1)
ENST00000650163.1:n.658A>G (ACTC1)
ENST00000290378.4:c.578A>G (ACTC1)	ENSP00000290378.4:p.Lys193Arg
ENST00000557860.1:n.268A>G (ACTC1)
ENST00000560563.1:n.77A>G (ACTC1)
NM_005159.4:c.578A>G , LRG_388t1:c.578A>G (ACTC1)	NP_005150.1:p.Lys193Arg
NR_120329.1:n.299+15015T>C (GJD2-DT)
NM_005159.5:c.578A>G (ACTC1) MANE Select	NP_005150.1:p.Lys193Arg