Canonical Allele Identifier: CA968572583

Gene: GJD2-DT

Linked Data

• dbSNP Id: rs1891835676
• gnomAD v3: 15-34796439-T-C
• gnomAD v4: 15-34796439-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34796439T>C , CM000677.2:g.34796439T>C	GRCh38
NC_000015.9:g.35088640T>C , CM000677.1:g.35088640T>C	GRCh37
NC_000015.8:g.32875932T>C	NCBI36
NG_007553.1:g.4288A>G , LRG_388:g.4288A>G

Transcript Alleles

HGVS	Amino-acid Change
NR_120329.1:n.300-14057T>C