Canonical Allele Identifier: CA268662366
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 921021
ClinVar RCV Id: RCV001180163 RCV003769959 RCV004006631
dbSNP Id: rs1055408313
gnomAD v3: 15-34792415-G-A
gnomAD v4: 15-34792415-G-A
COSMIC: COSM4912175
MyVariant Identifiers: chr15:g.35084616G>A (hg19) chr15:g.34792415G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792415G>A , CM000677.2:g.34792415G>A GRCh38
NC_000015.9:g.35084616G>A , CM000677.1:g.35084616G>A GRCh37
NC_000015.8:g.32871908G>A NCBI36
NG_007553.1:g.8312C>T , LRG_388:g.8312C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.715C>T (ACTC1)
ENST00000290378.6:c.609C>T (ACTC1) MANE Select ENSP00000290378.4:p.Val203=
ENST00000647798.1:n.703C>T (ACTC1)
ENST00000648556.1:n.766C>T (ACTC1)
ENST00000650163.1:n.689C>T (ACTC1)
ENST00000290378.4:c.609C>T (ACTC1) ENSP00000290378.4:p.Val203=
ENST00000557860.1:n.299C>T (ACTC1)
ENST00000560563.1:n.108C>T (ACTC1)
NM_005159.4:c.609C>T , LRG_388t1:c.609C>T (ACTC1) NP_005150.1:p.Val203=
NR_120329.1:n.299+14984G>A (GJD2-DT)
NM_005159.5:c.609C>T (ACTC1) MANE Select NP_005150.1:p.Val203=
Search 100 bp 5'
Search 100 bp 3'