Canonical Allele Identifier: CA617197776

Gene: GJD2-DT

Linked Data

• dbSNP Id: rs1276745534
• gnomAD v2: 15-35088626-T-C
• gnomAD v3: 15-34796425-T-C
• gnomAD v4: 15-34796425-T-C
• MyVariant Identifiers: chr15:g.35088626T>C (hg19) ; chr15:g.34796425T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34796425T>C , CM000677.2:g.34796425T>C	GRCh38
NC_000015.9:g.35088626T>C , CM000677.1:g.35088626T>C	GRCh37
NC_000015.8:g.32875918T>C	NCBI36
NG_007553.1:g.4302A>G , LRG_388:g.4302A>G

Transcript Alleles

HGVS	Amino-acid Change
NR_120329.1:n.300-14071T>C