Canonical Allele Identifier: CA398325222

Gene: FOXN1

Linked Data

• ClinVar Variation Id: 1993481
• ClinVar RCV Id: RCV002801429
• COSMIC: COSM705846
• MyVariant Identifiers: chr17:g.26861727G>A (hg19) ; chr17:g.28534709G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28534709G>A , CM000679.2:g.28534709G>A	GRCh38
NC_000017.10:g.26861727G>A , CM000679.1:g.26861727G>A	GRCh37
NC_000017.9:g.23885854G>A	NCBI36
NG_007260.1:g.15769G>A , LRG_61:g.15769G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000577936.2:c.1138G>A	ENSP00000462159.2:p.Glu380Lys
ENST00000579795.6:c.1138G>A MANE Select	ENSP00000464645.1:p.Glu380Lys
ENST00000226247.2:c.1138G>A	ENSP00000226247.2:p.Glu380Lys
ENST00000481916.6:c.*1195+69342C>T	ENSP00000436369.2:n.*1195+69342C>T
ENST00000579795.5:c.1138G>A	ENSP00000464645.1:p.Glu380Lys
NM_003593.2:c.1138G>A , LRG_61t1:c.1138G>A	NP_003584.2:p.Glu380Lys
XM_005258046.3:c.1138G>A	XP_005258103.1:p.Glu380Lys
XM_011525354.1:c.1195G>A	XP_011523656.1:p.Glu399Lys
XM_011525355.1:c.1192G>A	XP_011523657.1:p.Glu398Lys
XM_011525356.1:c.1192G>A	XP_011523658.1:p.Glu398Lys
XM_011525357.1:c.1174G>A	XP_011523659.1:p.Glu392Lys
XM_011525358.1:c.1141G>A	XP_011523660.1:p.Glu381Lys
XM_011525359.1:c.1141G>A	XP_011523661.1:p.Glu381Lys
XM_011525360.1:c.1141G>A	XP_011523662.1:p.Glu381Lys
XM_011525361.1:c.1138G>A	XP_011523663.1:p.Glu380Lys
XM_011525362.1:c.1138G>A	XP_011523664.1:p.Glu380Lys
XM_011525363.1:c.1192+171G>A	XP_011523665.1:n.1192+171G>A
XM_011525364.1:c.673G>A	XP_011523666.1:p.Glu225Lys
XM_011525365.1:c.1192+171G>A	XP_011523667.1:n.1192+171G>A
XM_011525366.1:c.595G>A	XP_011523668.1:p.Glu199Lys
XM_011525367.1:c.580G>A	XP_011523669.1:p.Glu194Lys
XM_011525368.1:c.502G>A	XP_011523670.1:p.Glu168Lys
XM_011525369.1:c.502G>A	XP_011523671.1:p.Glu168Lys
XM_011525370.1:c.502G>A	XP_011523672.1:p.Glu168Lys
XM_011525368.2:c.502G>A	XP_011523670.1:p.Glu168Lys
XM_011525369.2:c.502G>A	XP_011523671.1:p.Glu168Lys
XM_011525370.2:c.502G>A	XP_011523672.1:p.Glu168Lys
XM_017025228.1:c.1138G>A	XP_016880717.1:p.Glu380Lys
XM_017025229.1:c.1138+171G>A	XP_016880718.1:n.1138+171G>A
XM_017025230.1:c.1138+171G>A	XP_016880719.1:n.1138+171G>A
XM_017025231.1:c.1138+171G>A	XP_016880720.1:n.1138+171G>A
NM_001369369.1:c.1138G>A MANE Select	NP_001356298.1:p.Glu380Lys
NM_003593.3:c.1138G>A	NP_003584.2:p.Glu380Lys