Canonical Allele Identifier: CA6604273
Gene: HOXC11 HGNC NCBI
HOTAIR HGNC NCBI

Linked Data

ClinVar Variation Id: 2228996
ClinVar RCV Id: RCV004096948
dbSNP Id: rs556993752
ExAC: 12:54367599 C / G
gnomAD v2: 12-54367599-C-G
gnomAD v3: 12-53973815-C-G
gnomAD v4: 12-53973815-C-G
MyVariant Identifiers: chr12:g.54367599C>G (hg19) chr12:g.53973815C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53973815C>G , CM000674.2:g.53973815C>G GRCh38
NC_000012.11:g.54367599C>G , CM000674.1:g.54367599C>G GRCh37
NC_000012.10:g.52653866C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000243082.4:c.574C>G (HOXC11) ENSP00000243082.4:p.Arg192Gly
ENST00000546378.1:c.574C>G (HOXC11) MANE Select ENSP00000446680.1:p.Arg192Gly
NM_014212.3:c.574C>G (HOXC11) NP_055027.1:p.Arg192Gly
NR_047517.1:n.59+1083G>C (HOTAIR)
NM_014212.4:c.574C>G (HOXC11) MANE Select NP_055027.1:p.Arg192Gly
Search 100 bp 5'
Search 100 bp 3'