Canonical Allele Identifier: CA11038656
Gene: HOXD3 HGNC NCBI
COSMIC:
COSN6679162 (not active)
MyVariant.info:
GRCh38 chr2:g.176147850C>T
GRCh37 chr2:g.177012578C>T
gnomAD v2:
2:177012578 C / T
gnomAD v3:
2:176147850 C / T
gnomAD v4:
chr2-176147850-C-T
Joint Max Group AF 0.6466817 (SAS)
Genomes Max Group AF 0.6466817 (SAS)
dbSNP:
4972806
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176147850C>T , CM000664.2:g.176147850C>T GRCh38
NC_000002.11:g.177012578C>T , CM000664.1:g.177012578C>T GRCh37
NC_000002.10:g.176720824C>T NCBI36
NG_012080.1:g.1466C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000432796.2:c.-85+10851C>T ENSP00000392615.2:n.-85+10851C>T
XM_005246510.3:c.-181+10851C>T XP_005246567.1:n.-181+10851C>T
XM_006712477.2:c.-85+10851C>T XP_006712540.1:n.-85+10851C>T
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