Canonical Allele Identifier: CA019865

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 45186
• ClinVar RCV Id: RCV000038336 ; RCV001057276 ; RCV001552724 ; RCV001331367 ; RCV004018869
• dbSNP Id: rs397517067
• MyVariant Identifiers: chr15:g.35084464C>T (hg19) ; chr15:g.34792263C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792263C>T , CM000677.2:g.34792263C>T	GRCh38
NC_000015.9:g.35084464C>T , CM000677.1:g.35084464C>T	GRCh37
NC_000015.8:g.32871756C>T	NCBI36
NG_007553.1:g.8464G>A , LRG_388:g.8464G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.741G>A (ACTC1)
ENST00000290378.6:c.635G>A (ACTC1) MANE Select	ENSP00000290378.4:p.Arg212His
ENST00000647798.1:n.729G>A (ACTC1)
ENST00000648556.1:n.792G>A (ACTC1)
ENST00000650163.1:n.715G>A (ACTC1)
ENST00000290378.4:c.635G>A (ACTC1)	ENSP00000290378.4:p.Arg212His
ENST00000557860.1:n.325G>A (ACTC1)
ENST00000560563.1:n.134G>A (ACTC1)
NM_005159.4:c.635G>A , LRG_388t1:c.635G>A (ACTC1)	NP_005150.1:p.Arg212His
NR_120329.1:n.299+14832C>T (GJD2-DT)
NM_005159.5:c.635G>A (ACTC1) MANE Select	NP_005150.1:p.Arg212His