Canonical Allele Identifier: CA16619866
Gene: NKX2-1 HGNC NCBI
SFTA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 419364
ClinVar RCV Id: RCV000486413
dbSNP Id: rs1064793819

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36517278T>G , CM000676.2:g.36517278T>G GRCh38
NC_000014.8:g.36986483T>G , CM000676.1:g.36986483T>G GRCh37
NC_000014.7:g.36056234T>G NCBI36
NG_013365.1:g.7948A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000522719.4:c.1116A>C (NKX2-1) ENSP00000429519.4:p.Ter372Cys
ENST00000354822.7:c.1206A>C (NKX2-1) MANE Select ENSP00000346879.6:p.Ter402Cys
ENST00000521945.1:n.54+2190A>C
ENST00000522719.3:c.*1243A>C (NKX2-1) ENSP00000429519.3:n.*1243A>C
ENST00000546983.2:c.373+1707A>C ENSP00000449302.2:n.373+1707A>C
ENST00000354822.6:c.1206A>C (NKX2-1) ENSP00000346879.5:p.Ter402Cys
ENST00000498187.6:c.1116A>C (NKX2-1) ENSP00000429607.2:p.Ter372Cys
ENST00000518149.5:c.1116A>C (NKX2-1) ENSP00000428341.1:p.Ter372Cys
ENST00000522719.2:c.1116A>C (NKX2-1) ENSP00000429519.2:p.Ter372Cys
NM_001079668.2:c.1206A>C (NKX2-1) NP_001073136.1:p.Ter402Cys
NM_003317.3:c.1116A>C (NKX2-1) NP_003308.1:p.Ter372Cys
NM_001352986.1:c.-283+2190A>C (SFTA3) NP_001339915.1:n.-283+2190A>C
NM_001352987.1:c.-237+2190A>C (SFTA3) NP_001339916.1:n.-237+2190A>C
NM_001079668.3:c.1206A>C (NKX2-1) MANE Select NP_001073136.1:p.Ter402Cys
NM_003317.4:c.1116A>C (NKX2-1) NP_003308.1:p.Ter372Cys
NR_161364.1:n.89+2190A>C (SFTA3)
NR_161365.1:n.89+2190A>C (SFTA3)