Canonical Allele Identifier: CA712283478

Gene: GJD2-DT

Linked Data

• dbSNP Id: rs1448633386
• gnomAD v3: 15-34796585-C-G
• gnomAD v4: 15-34796585-C-G
• MyVariant Identifiers: chr15:g.35088786C>G (hg19) ; chr15:g.34796585C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34796585C>G , CM000677.2:g.34796585C>G	GRCh38
NC_000015.9:g.35088786C>G , CM000677.1:g.35088786C>G	GRCh37
NC_000015.8:g.32876078C>G	NCBI36
NG_007553.1:g.4142G>C , LRG_388:g.4142G>C

Transcript Alleles

HGVS	Amino-acid Change
NR_120329.1:n.300-13911C>G