Canonical Allele Identifier: CA617196901

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1294679212
• gnomAD v2: 15-35083297-C-G
• COSMIC: COSN5753956 ; COSN5753957
• MyVariant Identifiers: chr15:g.35083297C>G (hg19) ; chr15:g.34791096C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791096C>G , CM000677.2:g.34791096C>G	GRCh38
NC_000015.9:g.35083297C>G , CM000677.1:g.35083297C>G	GRCh37
NC_000015.8:g.32870589C>G	NCBI36
NG_007553.1:g.9631G>C , LRG_388:g.9631G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.1890+18G>C (ACTC1)
ENST00000290378.6:c.990+18G>C (ACTC1) MANE Select	ENSP00000290378.4:n.990+18G>C
ENST00000647798.1:n.1084+18G>C (ACTC1)
ENST00000650163.1:n.1070+18G>C (ACTC1)
ENST00000290378.4:c.990+18G>C (ACTC1)	ENSP00000290378.4:n.990+18G>C
NM_005159.4:c.990+18G>C , LRG_388t1:c.990+18G>C (ACTC1)	NP_005150.1:n.990+18G>C
NR_120329.1:n.299+13665C>G (GJD2-DT)
NM_005159.5:c.990+18G>C (ACTC1) MANE Select	NP_005150.1:n.990+18G>C