Canonical Allele Identifier: CA040856

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 259653
• ClinVar RCV Id: RCV000246022 ; RCV000830572
• dbSNP Id: rs76013827
• ExAC: 15:35086849 G / T
• gnomAD v2: 15-35086849-G-T
• gnomAD v3: 15-34794648-G-T
• gnomAD v4: 15-34794648-G-T
• MyVariant Identifiers: chr15:g.35086849G>T (hg19) ; chr15:g.34794648G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34794648G>T , CM000677.2:g.34794648G>T	GRCh38
NC_000015.9:g.35086849G>T , CM000677.1:g.35086849G>T	GRCh37
NC_000015.8:g.32874141G>T	NCBI36
NG_007553.1:g.6079C>A , LRG_388:g.6079C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.235+32C>A (ACTC1)
ENST00000290378.6:c.129+32C>A (ACTC1) MANE Select	ENSP00000290378.4:n.129+32C>A
ENST00000290378.4:c.129+32C>A (ACTC1)	ENSP00000290378.4:n.129+32C>A
NM_005159.4:c.129+32C>A , LRG_388t1:c.129+32C>A (ACTC1)	NP_005150.1:n.129+32C>A
NR_120329.1:n.300-15848G>T (GJD2-DT)
NM_005159.5:c.129+32C>A (ACTC1) MANE Select	NP_005150.1:n.129+32C>A