Canonical Allele Identifier: CA10024399
Gene: KCNJ6 HGNC NCBI
DSCR4 HGNC NCBI
COSMIC:
COSN8868826 (not active)
COSN15304593 (not active)
MyVariant.info:
GRCh38 chr21:g.37952931C>T
GRCh37 chr21:g.39325234C>T
Revel Score:
ENST00000398948 0.017
gnomAD v2:
21:39325234 C / T
gnomAD v3:
21:37952931 C / T
gnomAD v4:
chr21-37952931-C-T
Joint Max Group AF 0.5106903 (AFR)
Genomes Max Group AF 0.49854681 (AFR)
Exomes Max Group AF 0.52634007 (AFR)
dbSNP:
2836061
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.37952931C>T , CM000683.2:g.37952931C>T GRCh38
NC_000021.8:g.39325234C>T , CM000683.1:g.39325234C>T GRCh37
NC_000021.7:g.38247104C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645093.1:c.-27-112222G>A (KCNJ6) ENSP00000493772.1:n.-27-112222G>A
ENST00000398948.5:c.305G>A (DSCR4) ENSP00000381921.1:p.Ser102Asn
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