Canonical Allele Identifier: CA254618

Gene: NKX2-1 SFTA3

Linked Data

• ClinVar Variation Id: 8973
• ClinVar RCV Id: RCV000009536
• dbSNP Id: rs28936671
• gnomAD v4: 14-36517757-G-T
• MyVariant Identifiers: chr14:g.36986962G>T (hg19) ; chr14:g.36517757G>T (hg38)
• PubMed: PMID:11971878

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36517757G>T , CM000676.2:g.36517757G>T	GRCh38
NC_000014.8:g.36986962G>T , CM000676.1:g.36986962G>T	GRCh37
NC_000014.7:g.36056713G>T	NCBI36
NG_013365.1:g.7469C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000522719.4:c.637C>A (NKX2-1)	ENSP00000429519.4:p.Arg213Ser
ENST00000354822.7:c.727C>A (NKX2-1) MANE Select	ENSP00000346879.6:p.Arg243Ser
ENST00000521945.1:n.54+1711C>A
ENST00000522719.3:c.*764C>A (NKX2-1)	ENSP00000429519.3:n.*764C>A
ENST00000546983.2:c.373+1228C>A	ENSP00000449302.2:n.373+1228C>A
ENST00000354822.6:c.727C>A (NKX2-1)	ENSP00000346879.5:p.Arg243Ser
ENST00000498187.6:c.637C>A (NKX2-1)	ENSP00000429607.2:p.Arg213Ser
ENST00000518149.5:c.637C>A (NKX2-1)	ENSP00000428341.1:p.Arg213Ser
ENST00000522719.2:c.637C>A (NKX2-1)	ENSP00000429519.2:p.Arg213Ser
NM_001079668.2:c.727C>A (NKX2-1)	NP_001073136.1:p.Arg243Ser
NM_003317.3:c.637C>A (NKX2-1)	NP_003308.1:p.Arg213Ser
NM_001352986.1:c.-283+1711C>A (SFTA3)	NP_001339915.1:n.-283+1711C>A
NM_001352987.1:c.-237+1711C>A (SFTA3)	NP_001339916.1:n.-237+1711C>A
NM_001079668.3:c.727C>A (NKX2-1) MANE Select	NP_001073136.1:p.Arg243Ser
NM_003317.4:c.637C>A (NKX2-1)	NP_003308.1:p.Arg213Ser
NR_161364.1:n.89+1711C>A (SFTA3)
NR_161365.1:n.89+1711C>A (SFTA3)