Canonical Allele Identifier: CA10644132

Gene: NKX2-1 SFTA3

Linked Data

• ClinVar Variation Id: 313134
• ClinVar RCV Id: RCV000311232 ; RCV000356687 ; RCV002262982
• dbSNP Id: rs572546897
• gnomAD v2: 14-36986274-A-T
• gnomAD v3: 14-36517069-A-T
• gnomAD v4: 14-36517069-A-T
• COSMIC: COSN19657284 ; COSN21811577 ; COSN26441595
• MyVariant Identifiers: chr14:g.36986274A>T (hg19) ; chr14:g.36517069A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36517069A>T , CM000676.2:g.36517069A>T	GRCh38
NC_000014.8:g.36986274A>T , CM000676.1:g.36986274A>T	GRCh37
NC_000014.7:g.36056025A>T	NCBI36
NG_013365.1:g.8157T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354822.7:c.*209T>A (NKX2-1) MANE Select	ENSP00000346879.6:n.*209T>A
ENST00000521945.1:n.54+2399T>A
ENST00000546983.2:c.373+1916T>A	ENSP00000449302.2:n.373+1916T>A
ENST00000354822.6:c.*209T>A (NKX2-1)	ENSP00000346879.5:n.*209T>A
ENST00000498187.6:c.*209T>A (NKX2-1)	ENSP00000429607.2:n.*209T>A
ENST00000518149.5:c.*209T>A (NKX2-1)	ENSP00000428341.1:n.*209T>A
NM_001079668.2:c.*209T>A (NKX2-1)	NP_001073136.1:n.*209T>A
NM_003317.3:c.*209T>A (NKX2-1)	NP_003308.1:n.*209T>A
NM_001352986.1:c.-283+2399T>A (SFTA3)	NP_001339915.1:n.-283+2399T>A
NM_001352987.1:c.-237+2399T>A (SFTA3)	NP_001339916.1:n.-237+2399T>A
NM_001079668.3:c.*209T>A (NKX2-1) MANE Select	NP_001073136.1:n.*209T>A
NM_003317.4:c.*209T>A (NKX2-1)	NP_003308.1:n.*209T>A
NR_161364.1:n.89+2399T>A (SFTA3)
NR_161365.1:n.89+2399T>A (SFTA3)