Canonical Allele Identifier: CA6604632
Gene: HOXC6 HGNC NCBI
MIR196A2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.53991815C>T
GRCh37 chr12:g.54385599C>T
gnomAD v2:
12:54385599 C / T
gnomAD v3:
12:53991815 C / T
gnomAD v4:
chr12-53991815-C-T
Joint Max Group AF 0.53576063 (EAS)
Genomes Max Group AF 0.52442725 (EAS)
Exomes Max Group AF 0.53553411 (EAS)
dbSNP:
11614913
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53991815C>T , CM000674.2:g.53991815C>T GRCh38
NC_000012.11:g.54385599C>T , CM000674.1:g.54385599C>T GRCh37
NC_000012.10:g.52671866C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000504315.1:c.-193+1001C>T (HOXC6) ENSP00000424124.1:n.-193+1001C>T
ENST00000513209.1:c.166+5805C>T ENSP00000476742.1:n.166+5805C>T
NR_029617.1:n.78C>T (MIR196A2)
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