Canonical Allele Identifier: CA7158418
Gene: NKX2-1 HGNC NCBI
SFTA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 313140
dbSNP Id: rs147542347

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36517391C>A , CM000676.2:g.36517391C>A GRCh38
NC_000014.8:g.36986596C>A , CM000676.1:g.36986596C>A GRCh37
NC_000014.7:g.36056347C>A NCBI36
NG_013365.1:g.7835G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000522719.4:c.1003G>T (NKX2-1) ENSP00000429519.4:p.Ala335Ser
ENST00000354822.7:c.1093G>T (NKX2-1) MANE Select ENSP00000346879.6:p.Ala365Ser
ENST00000521945.1:n.54+2077G>T
ENST00000522719.3:c.*1130G>T (NKX2-1) ENSP00000429519.3:n.*1130G>T
ENST00000546983.2:c.373+1594G>T ENSP00000449302.2:n.373+1594G>T
ENST00000354822.6:c.1093G>T (NKX2-1) ENSP00000346879.5:p.Ala365Ser
ENST00000498187.6:c.1003G>T (NKX2-1) ENSP00000429607.2:p.Ala335Ser
ENST00000518149.5:c.1003G>T (NKX2-1) ENSP00000428341.1:p.Ala335Ser
ENST00000522719.2:c.1003G>T (NKX2-1) ENSP00000429519.2:p.Ala335Ser
NM_001079668.2:c.1093G>T (NKX2-1) NP_001073136.1:p.Ala365Ser
NM_003317.3:c.1003G>T (NKX2-1) NP_003308.1:p.Ala335Ser
NM_001352986.1:c.-283+2077G>T (SFTA3) NP_001339915.1:n.-283+2077G>T
NM_001352987.1:c.-237+2077G>T (SFTA3) NP_001339916.1:n.-237+2077G>T
NM_001079668.3:c.1093G>T (NKX2-1) MANE Select NP_001073136.1:p.Ala365Ser
NM_003317.4:c.1003G>T (NKX2-1) NP_003308.1:p.Ala335Ser
NR_161364.1:n.89+2077G>T (SFTA3)
NR_161365.1:n.89+2077G>T (SFTA3)