Canonical Allele Identifier: CA617197778

Gene: GJD2-DT

Linked Data

• dbSNP Id: rs1219198543
• gnomAD v2: 15-35088642-C-T
• gnomAD v3: 15-34796441-C-T
• gnomAD v4: 15-34796441-C-T
• MyVariant Identifiers: chr15:g.35088642C>T (hg19) ; chr15:g.34796441C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34796441C>T , CM000677.2:g.34796441C>T	GRCh38
NC_000015.9:g.35088642C>T , CM000677.1:g.35088642C>T	GRCh37
NC_000015.8:g.32875934C>T	NCBI36
NG_007553.1:g.4286G>A , LRG_388:g.4286G>A

Transcript Alleles

HGVS	Amino-acid Change
NR_120329.1:n.300-14055C>T