Canonical Allele Identifier: CA7158461

Gene: NKX2-1 SFTA3

Linked Data

• dbSNP Id: rs748104207
• ExAC: 14:36987026 G / A
• gnomAD v2: 14-36987026-G-A
• gnomAD v3: 14-36517821-G-A
• gnomAD v4: 14-36517821-G-A
• COSMIC: COSM6210135 ; COSM6210136
• MyVariant Identifiers: chr14:g.36987026G>A (hg19) ; chr14:g.36517821G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36517821G>A , CM000676.2:g.36517821G>A	GRCh38
NC_000014.8:g.36987026G>A , CM000676.1:g.36987026G>A	GRCh37
NC_000014.7:g.36056777G>A	NCBI36
NG_013365.1:g.7405C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522719.4:c.573C>T (NKX2-1)	ENSP00000429519.4:p.Arg191=
ENST00000354822.7:c.663C>T (NKX2-1) MANE Select	ENSP00000346879.6:p.Arg221=
ENST00000521945.1:n.54+1647C>T
ENST00000522719.3:c.*700C>T (NKX2-1)	ENSP00000429519.3:n.*700C>T
ENST00000546983.2:c.373+1164C>T	ENSP00000449302.2:n.373+1164C>T
ENST00000354822.6:c.663C>T (NKX2-1)	ENSP00000346879.5:p.Arg221=
ENST00000498187.6:c.573C>T (NKX2-1)	ENSP00000429607.2:p.Arg191=
ENST00000518149.5:c.573C>T (NKX2-1)	ENSP00000428341.1:p.Arg191=
ENST00000522719.2:c.573C>T (NKX2-1)	ENSP00000429519.2:p.Arg191=
NM_001079668.2:c.663C>T (NKX2-1)	NP_001073136.1:p.Arg221=
NM_003317.3:c.573C>T (NKX2-1)	NP_003308.1:p.Arg191=
NM_001352986.1:c.-283+1647C>T (SFTA3)	NP_001339915.1:n.-283+1647C>T
NM_001352987.1:c.-237+1647C>T (SFTA3)	NP_001339916.1:n.-237+1647C>T
NM_001079668.3:c.663C>T (NKX2-1) MANE Select	NP_001073136.1:p.Arg221=
NM_003317.4:c.573C>T (NKX2-1)	NP_003308.1:p.Arg191=
NR_161364.1:n.89+1647C>T (SFTA3)
NR_161365.1:n.89+1647C>T (SFTA3)