Canonical Allele Identifier: CA041668

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 220307
• ClinVar RCV Id: RCV000206432 ; RCV000245777 ; RCV001177090 ; RCV003997630 ; RCV003937780
• dbSNP Id: rs774767260
• ExAC: 15:35085567 C / T
• gnomAD v2: 15-35085567-C-T
• gnomAD v3: 15-34793366-C-T
• gnomAD v4: 15-34793366-C-T
• COSMIC: COSM4652587
• MyVariant Identifiers: chr15:g.35085567C>T (hg19) ; chr15:g.34793366C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793366C>T , CM000677.2:g.34793366C>T	GRCh38
NC_000015.9:g.35085567C>T , CM000677.1:g.35085567C>T	GRCh37
NC_000015.8:g.32872859C>T	NCBI36
NG_007553.1:g.7361G>A , LRG_388:g.7361G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.439G>A (ACTC1)
ENST00000290378.6:c.333G>A (ACTC1) MANE Select	ENSP00000290378.4:p.Pro111=
ENST00000647798.1:n.480G>A (ACTC1)
ENST00000648556.1:n.490G>A (ACTC1)
ENST00000650163.1:n.413G>A (ACTC1)
ENST00000290378.4:c.333G>A (ACTC1)	ENSP00000290378.4:p.Pro111=
NM_005159.4:c.333G>A , LRG_388t1:c.333G>A (ACTC1)	NP_005150.1:p.Pro111=
NR_120329.1:n.299+15935C>T (GJD2-DT)
NM_005159.5:c.333G>A (ACTC1) MANE Select	NP_005150.1:p.Pro111=