Canonical Allele Identifier: CA126347

Gene: FLT3

Linked Data

• ClinVar Variation Id: 16276
• ClinVar RCV Id: RCV000017666 ; RCV000017665
• dbSNP Id: rs121913488
• COSMIC: COSM783
• MyVariant Identifiers: chr13:g.28592642C>A (hg19) ; chr13:g.28018505C>A (hg38)
• CIViC: CA126347
• PubMed: PMID:11290608 ; PMID:11442493 ; PMID:14670924 ; PMID:15256420 ; PMID:16857985 ; PMID:17889720 ; PMID:19657110 ; PMID:20733134 ; PMID:22368270 ; PMID:22504183 ; PMID:22504184 ; PMID:23261068 ; PMID:23321257 ; PMID:23430109 ; PMID:23714533 ; PMID:23783394 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28018505C>A , CM000675.2:g.28018505C>A	GRCh38
NC_000013.10:g.28592642C>A , CM000675.1:g.28592642C>A	GRCh37
NC_000013.9:g.27490642C>A	NCBI36
NG_007066.1:g.87064G>T , LRG_457:g.87064G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241453.12:c.2503G>T MANE Select	ENSP00000241453.7:p.Asp835Tyr
ENST00000241453.11:c.2503G>T	ENSP00000241453.7:p.Asp835Tyr
ENST00000380987.2:c.*415G>T	ENSP00000370374.2:n.*415G>T
NM_004119.2:c.2503G>T , LRG_457t1:c.2503G>T	NP_004110.2:p.Asp835Tyr
NR_130706.1:n.2717G>T
XM_011535015.1:c.2446G>T	XP_011533317.1:p.Asp816Tyr
XM_011535016.1:c.1978G>T	XP_011533318.1:p.Asp660Tyr
XM_011535017.1:c.1978G>T	XP_011533319.1:p.Asp660Tyr
XM_011535018.1:c.1978G>T	XP_011533320.1:p.Asp660Tyr
XM_011535015.2:c.2446G>T	XP_011533317.1:p.Asp816Tyr
XM_011535017.2:c.1978G>T	XP_011533319.1:p.Asp660Tyr
XM_011535018.2:c.1978G>T	XP_011533320.1:p.Asp660Tyr
XM_017020486.1:c.2287G>T	XP_016875975.1:p.Asp763Tyr
XM_017020487.1:c.1978G>T	XP_016875976.1:p.Asp660Tyr
XM_017020488.1:c.1624G>T	XP_016875977.1:p.Asp542Tyr
XM_017020489.1:c.1606G>T	XP_016875978.1:p.Asp536Tyr
NM_004119.3:c.2503G>T MANE Select	NP_004110.2:p.Asp835Tyr
NR_130706.2:n.2701G>T