Canonical Allele Identifier: CA6604248
Gene: HOXC11 HGNC NCBI
HOTAIR HGNC NCBI

Linked Data

ClinVar Variation Id: 2207506
ClinVar RCV Id: RCV004073027
dbSNP Id: rs200941742
ExAC: 12:54367512 G / C
gnomAD v2: 12-54367512-G-C
gnomAD v3: 12-53973728-G-C
gnomAD v4: 12-53973728-G-C
MyVariant Identifiers: chr12:g.54367512G>C (hg19) chr12:g.53973728G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53973728G>C , CM000674.2:g.53973728G>C GRCh38
NC_000012.11:g.54367512G>C , CM000674.1:g.54367512G>C GRCh37
NC_000012.10:g.52653779G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000243082.4:c.487G>C (HOXC11) ENSP00000243082.4:p.Gly163Arg
ENST00000546378.1:c.487G>C (HOXC11) MANE Select ENSP00000446680.1:p.Gly163Arg
NM_014212.3:c.487G>C (HOXC11) NP_055027.1:p.Gly163Arg
NR_047517.1:n.59+1170C>G (HOTAIR)
NM_014212.4:c.487G>C (HOXC11) MANE Select NP_055027.1:p.Gly163Arg
Search 100 bp 5'
Search 100 bp 3'