Canonical Allele Identifier: CA6604279
Gene: HOXC11 HGNC NCBI
HOTAIR HGNC NCBI

Linked Data

dbSNP Id: rs575264457
ExAC: 12:54367614 G / A
gnomAD v2: 12-54367614-G-A
gnomAD v3: 12-53973830-G-A
gnomAD v4: 12-53973830-G-A
MyVariant Identifiers: chr12:g.54367614G>A (hg19) chr12:g.53973830G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53973830G>A , CM000674.2:g.53973830G>A GRCh38
NC_000012.11:g.54367614G>A , CM000674.1:g.54367614G>A GRCh37
NC_000012.10:g.52653881G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000243082.4:c.589G>A (HOXC11) ENSP00000243082.4:p.Ala197Thr
ENST00000546378.1:c.589G>A (HOXC11) MANE Select ENSP00000446680.1:p.Ala197Thr
NM_014212.3:c.589G>A (HOXC11) NP_055027.1:p.Ala197Thr
NR_047517.1:n.59+1068C>T (HOTAIR)
NM_014212.4:c.589G>A (HOXC11) MANE Select NP_055027.1:p.Ala197Thr
Search 100 bp 5'
Search 100 bp 3'