Canonical Allele Identifier: CA6604240
Gene: HOXC11 HGNC NCBI
HOTAIR HGNC NCBI

Linked Data

dbSNP Id: rs761028254
ExAC: 12:54367471 A / T
gnomAD v2: 12-54367471-A-T
gnomAD v4: 12-53973687-A-T
MyVariant Identifiers: chr12:g.54367471A>T (hg19) chr12:g.53973687A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53973687A>T , CM000674.2:g.53973687A>T GRCh38
NC_000012.11:g.54367471A>T , CM000674.1:g.54367471A>T GRCh37
NC_000012.10:g.52653738A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000243082.4:c.446A>T (HOXC11) ENSP00000243082.4:p.Gln149Leu
ENST00000546378.1:c.446A>T (HOXC11) MANE Select ENSP00000446680.1:p.Gln149Leu
NM_014212.3:c.446A>T (HOXC11) NP_055027.1:p.Gln149Leu
NR_047517.1:n.59+1211T>A (HOTAIR)
NM_014212.4:c.446A>T (HOXC11) MANE Select NP_055027.1:p.Gln149Leu
Search 100 bp 5'
Search 100 bp 3'