Canonical Allele Identifier: CA042423

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 919844
• ClinVar RCV Id: RCV001178255 ; RCV002068218 ; RCV002365847 ; RCV004006456
• dbSNP Id: rs199947846
• ExAC: 15:35084466 G / A
• gnomAD v2: 15-35084466-G-A
• gnomAD v3: 15-34792265-G-A
• gnomAD v4: 15-34792265-G-A
• MyVariant Identifiers: chr15:g.35084466G>A (hg19) ; chr15:g.34792265G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792265G>A , CM000677.2:g.34792265G>A	GRCh38
NC_000015.9:g.35084466G>A , CM000677.1:g.35084466G>A	GRCh37
NC_000015.8:g.32871758G>A	NCBI36
NG_007553.1:g.8462C>T , LRG_388:g.8462C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.739C>T (ACTC1)
ENST00000290378.6:c.633C>T (ACTC1) MANE Select	ENSP00000290378.4:p.Val211=
ENST00000647798.1:n.727C>T (ACTC1)
ENST00000648556.1:n.790C>T (ACTC1)
ENST00000650163.1:n.713C>T (ACTC1)
ENST00000290378.4:c.633C>T (ACTC1)	ENSP00000290378.4:p.Val211=
ENST00000557860.1:n.323C>T (ACTC1)
ENST00000560563.1:n.132C>T (ACTC1)
NM_005159.4:c.633C>T , LRG_388t1:c.633C>T (ACTC1)	NP_005150.1:p.Val211=
NR_120329.1:n.299+14834G>A (GJD2-DT)
NM_005159.5:c.633C>T (ACTC1) MANE Select	NP_005150.1:p.Val211=