Canonical Allele Identifier: CA387650230
Community Standard Title: NM_004119.3(FLT3):c.2488T>C (p.Phe830Leu)
Gene: FLT3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28018520A>G , CM000675.2:g.28018520A>G GRCh38
NC_000013.10:g.28592657A>G , CM000675.1:g.28592657A>G GRCh37
NC_000013.9:g.27490657A>G NCBI36
NG_007066.1:g.87049T>C , LRG_457:g.87049T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004119.3:c.2488T>C MANE Select NP_004110.2:p.Phe830Leu
ENST00000241453.12:c.2488T>C MANE Select ENSP00000241453.7:p.Phe830Leu
NM_004119.2:c.2488T>C , LRG_457t1:c.2488T>C NP_004110.2:p.Phe830Leu
NR_130706.1:n.2702T>C
NR_130706.2:n.2686T>C
ENST00000241453.11:c.2488T>C ENSP00000241453.7:p.Phe830Leu
ENST00000380987.2:c.*400T>C ENSP00000370374.2:n.*400T>C
XM_011535015.1:c.2431T>C XP_011533317.1:p.Phe811Leu
XM_011535015.2:c.2431T>C XP_011533317.1:p.Phe811Leu
XM_011535016.1:c.1963T>C XP_011533318.1:p.Phe655Leu
XM_011535017.1:c.1963T>C XP_011533319.1:p.Phe655Leu
XM_011535017.2:c.1963T>C XP_011533319.1:p.Phe655Leu
XM_011535018.1:c.1963T>C XP_011533320.1:p.Phe655Leu
XM_011535018.2:c.1963T>C XP_011533320.1:p.Phe655Leu
XM_017020486.1:c.2272T>C XP_016875975.1:p.Phe758Leu
XM_017020487.1:c.1963T>C XP_016875976.1:p.Phe655Leu
XM_017020488.1:c.1609T>C XP_016875977.1:p.Phe537Leu
XM_017020489.1:c.1591T>C XP_016875978.1:p.Phe531Leu