Canonical Allele Identifier: CA389459545

Gene: NKX2-1 SFTA3

Linked Data

• gnomAD v4: 14-36517925-G-A
• MyVariant Identifiers: chr14:g.36987130G>A (hg19) ; chr14:g.36517925G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36517925G>A , CM000676.2:g.36517925G>A	GRCh38
NC_000014.8:g.36987130G>A , CM000676.1:g.36987130G>A	GRCh37
NC_000014.7:g.36056881G>A	NCBI36
NG_013365.1:g.7301C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522719.4:c.469C>T (NKX2-1)	ENSP00000429519.4:p.Pro157Ser
ENST00000354822.7:c.559C>T (NKX2-1) MANE Select	ENSP00000346879.6:p.Pro187Ser
ENST00000521945.1:n.54+1543C>T
ENST00000522719.3:c.*596C>T (NKX2-1)	ENSP00000429519.3:n.*596C>T
ENST00000546983.2:c.373+1060C>T	ENSP00000449302.2:n.373+1060C>T
ENST00000354822.6:c.559C>T (NKX2-1)	ENSP00000346879.5:p.Pro187Ser
ENST00000498187.6:c.469C>T (NKX2-1)	ENSP00000429607.2:p.Pro157Ser
ENST00000518149.5:c.469C>T (NKX2-1)	ENSP00000428341.1:p.Pro157Ser
ENST00000522719.2:c.469C>T (NKX2-1)	ENSP00000429519.2:p.Pro157Ser
NM_001079668.2:c.559C>T (NKX2-1)	NP_001073136.1:p.Pro187Ser
NM_003317.3:c.469C>T (NKX2-1)	NP_003308.1:p.Pro157Ser
NM_001352986.1:c.-283+1543C>T (SFTA3)	NP_001339915.1:n.-283+1543C>T
NM_001352987.1:c.-237+1543C>T (SFTA3)	NP_001339916.1:n.-237+1543C>T
NM_001079668.3:c.559C>T (NKX2-1) MANE Select	NP_001073136.1:p.Pro187Ser
NM_003317.4:c.469C>T (NKX2-1)	NP_003308.1:p.Pro157Ser
NR_161364.1:n.89+1543C>T (SFTA3)
NR_161365.1:n.89+1543C>T (SFTA3)