Canonical Allele Identifier: CA10634822

Gene: NKX2-1 SFTA3

Linked Data

• ClinVar Variation Id: 313125
• ClinVar RCV Id: RCV000269848 ; RCV000327278
• dbSNP Id: rs886050478
• gnomAD v3: 14-36516734-C-T
• gnomAD v4: 14-36516734-C-T
• MyVariant Identifiers: chr14:g.36985939C>T (hg19) ; chr14:g.36516734C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36516734C>T , CM000676.2:g.36516734C>T	GRCh38
NC_000014.8:g.36985939C>T , CM000676.1:g.36985939C>T	GRCh37
NC_000014.7:g.36055690C>T	NCBI36
NG_013365.1:g.8492G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354822.7:c.*544G>A (NKX2-1) MANE Select	ENSP00000346879.6:n.*544G>A
ENST00000521945.1:n.54+2734G>A
ENST00000546983.2:c.373+2251G>A	ENSP00000449302.2:n.373+2251G>A
ENST00000354822.6:c.*544G>A (NKX2-1)	ENSP00000346879.5:n.*544G>A
ENST00000498187.6:c.*544G>A (NKX2-1)	ENSP00000429607.2:n.*544G>A
ENST00000518149.5:c.*544G>A (NKX2-1)	ENSP00000428341.1:n.*544G>A
NM_001079668.2:c.*544G>A (NKX2-1)	NP_001073136.1:n.*544G>A
NM_003317.3:c.*544G>A (NKX2-1)	NP_003308.1:n.*544G>A
NM_001352986.1:c.-283+2734G>A (SFTA3)	NP_001339915.1:n.-283+2734G>A
NM_001352987.1:c.-237+2734G>A (SFTA3)	NP_001339916.1:n.-237+2734G>A
NM_001079668.3:c.*544G>A (NKX2-1) MANE Select	NP_001073136.1:n.*544G>A
NM_003317.4:c.*544G>A (NKX2-1)	NP_003308.1:n.*544G>A
NR_161364.1:n.89+2734G>A (SFTA3)
NR_161365.1:n.89+2734G>A (SFTA3)