Canonical Allele Identifier: CA276951

Gene: FOXN1

Linked Data

• ClinVar Variation Id: 212710
• ClinVar RCV Id: RCV000192344
• dbSNP Id: rs797046135
• gnomAD v2: 17-26851543-C-T
• gnomAD v3: 17-28524525-C-T
• gnomAD v4: 17-28524525-C-T
• COSMIC: COSM560126
• MyVariant Identifiers: chr17:g.26851543C>T (hg19) ; chr17:g.28524525C>T (hg38)
• PubMed: PMID:26352270

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28524525C>T , CM000679.2:g.28524525C>T	GRCh38
NC_000017.10:g.26851543C>T , CM000679.1:g.26851543C>T	GRCh37
NC_000017.9:g.23875670C>T	NCBI36
NG_007260.1:g.5585C>T , LRG_61:g.5585C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000577936.2:c.146C>T	ENSP00000462159.2:p.Ser49Leu
ENST00000579795.6:c.146C>T MANE Select	ENSP00000464645.1:p.Ser49Leu
ENST00000226247.2:c.146C>T	ENSP00000226247.2:p.Ser49Leu
ENST00000481916.6:c.*1196-68416G>A	ENSP00000436369.2:n.*1196-68416G>A
ENST00000577936.1:c.146C>T	ENSP00000462159.1:p.Ser49Leu
ENST00000579795.5:c.146C>T	ENSP00000464645.1:p.Ser49Leu
NM_003593.2:c.146C>T , LRG_61t1:c.146C>T	NP_003584.2:p.Ser49Leu
XM_005258046.3:c.146C>T	XP_005258103.1:p.Ser49Leu
XM_011525354.1:c.200C>T	XP_011523656.1:p.Ser67Leu
XM_011525355.1:c.197C>T	XP_011523657.1:p.Ser66Leu
XM_011525356.1:c.200C>T	XP_011523658.1:p.Ser67Leu
XM_011525357.1:c.179C>T	XP_011523659.1:p.Ser60Leu
XM_011525358.1:c.146C>T	XP_011523660.1:p.Ser49Leu
XM_011525359.1:c.146C>T	XP_011523661.1:p.Ser49Leu
XM_011525360.1:c.146C>T	XP_011523662.1:p.Ser49Leu
XM_011525361.1:c.146C>T	XP_011523663.1:p.Ser49Leu
XM_011525362.1:c.143C>T	XP_011523664.1:p.Ser48Leu
XM_011525363.1:c.200C>T	XP_011523665.1:p.Ser67Leu
XM_011525364.1:c.123+433C>T	XP_011523666.1:n.123+433C>T
XM_011525365.1:c.200C>T	XP_011523667.1:p.Ser67Leu
XM_011525366.1:c.46-2726C>T	XP_011523668.1:n.46-2726C>T
XM_011525368.1:c.-51-2723C>T	XP_011523670.1:n.-51-2723C>T
XM_011525368.2:c.-51-2723C>T	XP_011523670.1:n.-51-2723C>T
XM_017025228.1:c.143C>T	XP_016880717.1:p.Ser48Leu
XM_017025229.1:c.146C>T	XP_016880718.1:p.Ser49Leu
XM_017025230.1:c.146C>T	XP_016880719.1:p.Ser49Leu
XM_017025231.1:c.146C>T	XP_016880720.1:p.Ser49Leu
NM_001369369.1:c.146C>T MANE Select	NP_001356298.1:p.Ser49Leu
NM_003593.3:c.146C>T	NP_003584.2:p.Ser49Leu