Canonical Allele Identifier: CA6604278

Gene: HOXC11 HOTAIR

Linked Data

• dbSNP Id: rs781395094
• ExAC: 12:54367612 G / A
• gnomAD v2: 12-54367612-G-A
• gnomAD v4: 12-53973828-G-A
• MyVariant Identifiers: chr12:g.54367612G>A (hg19) ; chr12:g.53973828G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53973828G>A , CM000674.2:g.53973828G>A	GRCh38
NC_000012.11:g.54367612G>A , CM000674.1:g.54367612G>A	GRCh37
NC_000012.10:g.52653879G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243082.4:c.587G>A (HOXC11)	ENSP00000243082.4:p.Gly196Asp
ENST00000546378.1:c.587G>A (HOXC11) MANE Select	ENSP00000446680.1:p.Gly196Asp
NM_014212.3:c.587G>A (HOXC11)	NP_055027.1:p.Gly196Asp
NR_047517.1:n.59+1070C>T (HOTAIR)
NM_014212.4:c.587G>A (HOXC11) MANE Select	NP_055027.1:p.Gly196Asp