Canonical Allele Identifier: CA2575670230

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 2143344
• ClinVar RCV Id: RCV003076673
• gnomAD v4: 15-34793587-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793587G>T , CM000677.2:g.34793587G>T	GRCh38
NC_000015.9:g.35085788G>T , CM000677.1:g.35085788G>T	GRCh37
NC_000015.8:g.32873080G>T	NCBI36
NG_007553.1:g.7140C>A , LRG_388:g.7140C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.236-18C>A (ACTC1)
ENST00000290378.6:c.130-18C>A (ACTC1) MANE Select	ENSP00000290378.4:n.130-18C>A
ENST00000647798.1:n.277-18C>A (ACTC1)
ENST00000648556.1:n.287-18C>A (ACTC1)
ENST00000650163.1:n.210-18C>A (ACTC1)
ENST00000290378.4:c.130-18C>A (ACTC1)	ENSP00000290378.4:n.130-18C>A
NM_005159.4:c.130-18C>A , LRG_388t1:c.130-18C>A (ACTC1)	NP_005150.1:n.130-18C>A
NR_120329.1:n.299+16156G>T (GJD2-DT)
NM_005159.5:c.130-18C>A (ACTC1) MANE Select	NP_005150.1:n.130-18C>A