Canonical Allele Identifier: CA7158435

Gene: NKX2-1 SFTA3

Linked Data

• ClinVar Variation Id: 696592
• ClinVar RCV Id: RCV000863019
• dbSNP Id: rs758010824
• ExAC: 14:36986783 C / G
• gnomAD v2: 14-36986783-C-G
• gnomAD v3: 14-36517578-C-G
• gnomAD v4: 14-36517578-C-G
• MyVariant Identifiers: chr14:g.36986783C>G (hg19) ; chr14:g.36517578C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36517578C>G , CM000676.2:g.36517578C>G	GRCh38
NC_000014.8:g.36986783C>G , CM000676.1:g.36986783C>G	GRCh37
NC_000014.7:g.36056534C>G	NCBI36
NG_013365.1:g.7648G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522719.4:c.816G>C (NKX2-1)	ENSP00000429519.4:p.Ala272=
ENST00000354822.7:c.906G>C (NKX2-1) MANE Select	ENSP00000346879.6:p.Ala302=
ENST00000521945.1:n.54+1890G>C
ENST00000522719.3:c.*943G>C (NKX2-1)	ENSP00000429519.3:n.*943G>C
ENST00000546983.2:c.373+1407G>C	ENSP00000449302.2:n.373+1407G>C
ENST00000354822.6:c.906G>C (NKX2-1)	ENSP00000346879.5:p.Ala302=
ENST00000498187.6:c.816G>C (NKX2-1)	ENSP00000429607.2:p.Ala272=
ENST00000518149.5:c.816G>C (NKX2-1)	ENSP00000428341.1:p.Ala272=
ENST00000522719.2:c.816G>C (NKX2-1)	ENSP00000429519.2:p.Ala272=
NM_001079668.2:c.906G>C (NKX2-1)	NP_001073136.1:p.Ala302=
NM_003317.3:c.816G>C (NKX2-1)	NP_003308.1:p.Ala272=
NM_001352986.1:c.-283+1890G>C (SFTA3)	NP_001339915.1:n.-283+1890G>C
NM_001352987.1:c.-237+1890G>C (SFTA3)	NP_001339916.1:n.-237+1890G>C
NM_001079668.3:c.906G>C (NKX2-1) MANE Select	NP_001073136.1:p.Ala302=
NM_003317.4:c.816G>C (NKX2-1)	NP_003308.1:p.Ala272=
NR_161364.1:n.89+1890G>C (SFTA3)
NR_161365.1:n.89+1890G>C (SFTA3)