Canonical Allele Identifier: CA2129438104

Gene: NKX2-1 SFTA3

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36517739G= , CM000676.2:g.36517739G=	GRCh38
NC_000014.8:g.36986944G= , CM000676.1:g.36986944G=	GRCh37
NC_000014.7:g.36056695G=	NCBI36
NG_013365.1:g.7487C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522719.4:c.655C= (NKX2-1)	ENSP00000429519.4:p.Gln219=
ENST00000354822.7:c.745C= (NKX2-1) MANE Select	ENSP00000346879.6:p.Gln249=
ENST00000521945.1:n.54+1729C=
ENST00000522719.3:c.*782C= (NKX2-1)	ENSP00000429519.3:n.*782C=
ENST00000546983.2:c.373+1246C=	ENSP00000449302.2:n.373+1246C=
ENST00000354822.6:c.745C= (NKX2-1)	ENSP00000346879.5:p.Gln249=
ENST00000498187.6:c.655C= (NKX2-1)	ENSP00000429607.2:p.Gln219=
ENST00000518149.5:c.655C= (NKX2-1)	ENSP00000428341.1:p.Gln219=
ENST00000522719.2:c.655C= (NKX2-1)	ENSP00000429519.2:p.Gln219=
NM_001079668.2:c.745C= (NKX2-1)	NP_001073136.1:p.Gln249=
NM_003317.3:c.655C= (NKX2-1)	NP_003308.1:p.Gln219=
NM_001352986.1:c.-283+1729C= (SFTA3)	NP_001339915.1:n.-283+1729C=
NM_001352987.1:c.-237+1729C= (SFTA3)	NP_001339916.1:n.-237+1729C=
NM_001079668.3:c.745C= (NKX2-1) MANE Select	NP_001073136.1:p.Gln249=
NM_003317.4:c.655C= (NKX2-1)	NP_003308.1:p.Gln219=
NR_161364.1:n.89+1729C= (SFTA3)
NR_161365.1:n.89+1729C= (SFTA3)