Canonical Allele Identifier: CA043030

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 1766875
• ClinVar RCV Id: RCV002373961 ; RCV003229088
• dbSNP Id: rs543030688
• ExAC: 15:35083365 G / A
• gnomAD v2: 15-35083365-G-A
• gnomAD v4: 15-34791164-G-A
• COSMIC: COSM2268290
• MyVariant Identifiers: chr15:g.35083365G>A (hg19) ; chr15:g.34791164G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791164G>A , CM000677.2:g.34791164G>A	GRCh38
NC_000015.9:g.35083365G>A , CM000677.1:g.35083365G>A	GRCh37
NC_000015.8:g.32870657G>A	NCBI36
NG_007553.1:g.9563C>T , LRG_388:g.9563C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1840C>T (ACTC1)
ENST00000290378.6:c.940C>T (ACTC1) MANE Select	ENSP00000290378.4:p.Arg314Cys
ENST00000647798.1:n.1034C>T (ACTC1)
ENST00000650163.1:n.1020C>T (ACTC1)
ENST00000290378.4:c.940C>T (ACTC1)	ENSP00000290378.4:p.Arg314Cys
ENST00000557860.1:n.630C>T (ACTC1)
NM_005159.4:c.940C>T , LRG_388t1:c.940C>T (ACTC1)	NP_005150.1:p.Arg314Cys
NR_120329.1:n.299+13733G>A (GJD2-DT)
NM_005159.5:c.940C>T (ACTC1) MANE Select	NP_005150.1:p.Arg314Cys