Canonical Allele Identifier: CA385105543
Gene: HOXC11 HGNC NCBI
HOTAIR HGNC NCBI

Linked Data

ClinVar Variation Id: 2374769
ClinVar RCV Id: RCV004212915
gnomAD v4: 12-53973810-C-G
MyVariant Identifiers: chr12:g.54367594C>G (hg19) chr12:g.53973810C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53973810C>G , CM000674.2:g.53973810C>G GRCh38
NC_000012.11:g.54367594C>G , CM000674.1:g.54367594C>G GRCh37
NC_000012.10:g.52653861C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000243082.4:c.569C>G (HOXC11) ENSP00000243082.4:p.Ala190Gly
ENST00000546378.1:c.569C>G (HOXC11) MANE Select ENSP00000446680.1:p.Ala190Gly
NM_014212.3:c.569C>G (HOXC11) NP_055027.1:p.Ala190Gly
NR_047517.1:n.59+1088G>C (HOTAIR)
NM_014212.4:c.569C>G (HOXC11) MANE Select NP_055027.1:p.Ala190Gly
Search 100 bp 5'
Search 100 bp 3'