Canonical Allele Identifier: CA019947

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 136281
• ClinVar RCV Id: RCV000123503 ; RCV001119484 ; RCV001119485 ; RCV002055391
• dbSNP Id: rs587780846
• gnomAD v3: 15-34791307-T-C
• gnomAD v4: 15-34791307-T-C
• MyVariant Identifiers: chr15:g.35083508T>C (hg19) ; chr15:g.34791307T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791307T>C , CM000677.2:g.34791307T>C	GRCh38
NC_000015.9:g.35083508T>C , CM000677.1:g.35083508T>C	GRCh37
NC_000015.8:g.32870800T>C	NCBI36
NG_007553.1:g.9420A>G , LRG_388:g.9420A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1697A>G (ACTC1)
ENST00000290378.6:c.809-12A>G (ACTC1) MANE Select	ENSP00000290378.4:n.809-12A>G
ENST00000647798.1:n.903-12A>G (ACTC1)
ENST00000650163.1:n.889-12A>G (ACTC1)
ENST00000290378.4:c.809-12A>G (ACTC1)	ENSP00000290378.4:n.809-12A>G
ENST00000557860.1:n.499-12A>G (ACTC1)
NM_005159.4:c.809-12A>G , LRG_388t1:c.809-12A>G (ACTC1)	NP_005150.1:n.809-12A>G
NR_120329.1:n.299+13876T>C (GJD2-DT)
NM_005159.5:c.809-12A>G (ACTC1) MANE Select	NP_005150.1:n.809-12A>G