Canonical Allele Identifier: CA10645311

Gene: NKX2-1 SFTA3

Linked Data

• ClinVar Variation Id: 313146
• ClinVar RCV Id: RCV000271956 ; RCV000385014
• dbSNP Id: rs747491554
• gnomAD v4: 14-36519247-C-T
• MyVariant Identifiers: chr14:g.36988452C>T (hg19) ; chr14:g.36519247C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36519247C>T , CM000676.2:g.36519247C>T	GRCh38
NC_000014.8:g.36988452C>T , CM000676.1:g.36988452C>T	GRCh37
NC_000014.7:g.36058203C>T	NCBI36
NG_013365.1:g.5979G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000522719.4:c.111G>A (NKX2-1)	ENSP00000429519.4:p.Pro37=
ENST00000354822.7:c.201G>A (NKX2-1) MANE Select	ENSP00000346879.6:p.Pro67=
ENST00000521945.1:n.54+221G>A
ENST00000522719.3:c.*238G>A (NKX2-1)	ENSP00000429519.3:n.*238G>A
ENST00000546983.2:c.111G>A	ENSP00000449302.2:p.Pro37=
ENST00000354822.6:c.201G>A (NKX2-1)	ENSP00000346879.5:p.Pro67=
ENST00000498187.6:c.111G>A (NKX2-1)	ENSP00000429607.2:p.Pro37=
ENST00000518149.5:c.111G>A (NKX2-1)	ENSP00000428341.1:p.Pro37=
ENST00000522719.2:c.111G>A (NKX2-1)	ENSP00000429519.2:p.Pro37=
NM_001079668.2:c.201G>A (NKX2-1)	NP_001073136.1:p.Pro67=
NM_003317.3:c.111G>A (NKX2-1)	NP_003308.1:p.Pro37=
NM_001352986.1:c.-283+221G>A (SFTA3)	NP_001339915.1:n.-283+221G>A
NM_001352987.1:c.-237+221G>A (SFTA3)	NP_001339916.1:n.-237+221G>A
NM_001079668.3:c.201G>A (NKX2-1) MANE Select	NP_001073136.1:p.Pro67=
NM_003317.4:c.111G>A (NKX2-1)	NP_003308.1:p.Pro37=
NR_161364.1:n.89+221G>A (SFTA3)
NR_161365.1:n.89+221G>A (SFTA3)