Canonical Allele Identifier: CA254622

Gene: NKX2-1 SFTA3

Linked Data

• ClinVar Variation Id: 8978
• ClinVar RCV Id: RCV000009541 ; RCV000989204 ; RCV002512944
• dbSNP Id: rs587776708
• MyVariant Identifiers: chr14:g.36987227T>A (hg19) ; chr14:g.36518022T>A (hg38)
• PubMed: PMID:12891678

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36518022T>A , CM000676.2:g.36518022T>A	GRCh38
NC_000014.8:g.36987227T>A , CM000676.1:g.36987227T>A	GRCh37
NC_000014.7:g.36056978T>A	NCBI36
NG_013365.1:g.7204A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522719.4:c.374-2A>T (NKX2-1)	ENSP00000429519.4:n.374-2A>T
ENST00000354822.7:c.464-2A>T (NKX2-1) MANE Select	ENSP00000346879.6:n.464-2A>T
ENST00000521945.1:n.54+1446A>T
ENST00000522719.3:c.*501-2A>T (NKX2-1)	ENSP00000429519.3:n.*501-2A>T
ENST00000546983.2:c.373+963A>T	ENSP00000449302.2:n.373+963A>T
ENST00000354822.6:c.464-2A>T (NKX2-1)	ENSP00000346879.5:n.464-2A>T
ENST00000498187.6:c.374-2A>T (NKX2-1)	ENSP00000429607.2:n.374-2A>T
ENST00000518149.5:c.374-2A>T (NKX2-1)	ENSP00000428341.1:n.374-2A>T
ENST00000522719.2:c.374-2A>T (NKX2-1)	ENSP00000429519.2:n.374-2A>T
NM_001079668.2:c.464-2A>T (NKX2-1)	NP_001073136.1:n.464-2A>T
NM_003317.3:c.374-2A>T (NKX2-1)	NP_003308.1:n.374-2A>T
NM_001352986.1:c.-283+1446A>T (SFTA3)	NP_001339915.1:n.-283+1446A>T
NM_001352987.1:c.-237+1446A>T (SFTA3)	NP_001339916.1:n.-237+1446A>T
NM_001079668.3:c.464-2A>T (NKX2-1) MANE Select	NP_001073136.1:n.464-2A>T
NM_003317.4:c.374-2A>T (NKX2-1)	NP_003308.1:n.374-2A>T
NR_161364.1:n.89+1446A>T (SFTA3)
NR_161365.1:n.89+1446A>T (SFTA3)