Canonical Allele Identifier: CA159822

Gene: FLT3

Linked Data

• ClinVar Variation Id: 134439
• ClinVar RCV Id: RCV000121121
• dbSNP Id: rs587778369
• ExAC: 13:28578214 G / A
• gnomAD v2: 13-28578214-G-A
• gnomAD v3: 13-28004077-G-A
• gnomAD v4: 13-28004077-G-A
• COSMIC: COSM946463
• MyVariant Identifiers: chr13:g.28578214G>A (hg19) ; chr13:g.28004077G>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28004077G>A , CM000675.2:g.28004077G>A	GRCh38
NC_000013.10:g.28578214G>A , CM000675.1:g.28578214G>A	GRCh37
NC_000013.9:g.27476214G>A	NCBI36
NG_007066.1:g.101492C>T , LRG_457:g.101492C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241453.12:c.2957C>T MANE Select	ENSP00000241453.7:p.Pro986Leu
ENST00000241453.11:c.2957C>T	ENSP00000241453.7:p.Pro986Leu
ENST00000380987.2:c.*869C>T	ENSP00000370374.2:n.*869C>T
ENST00000469894.1:n.344C>T
NM_004119.2:c.2957C>T , LRG_457t1:c.2957C>T	NP_004110.2:p.Pro986Leu
NR_130706.1:n.3171C>T
XM_011535015.1:c.2900C>T	XP_011533317.1:p.Pro967Leu
XM_011535016.1:c.2432C>T	XP_011533318.1:p.Pro811Leu
XM_011535017.1:c.2432C>T	XP_011533319.1:p.Pro811Leu
XM_011535018.1:c.2432C>T	XP_011533320.1:p.Pro811Leu
XM_011535015.2:c.2900C>T	XP_011533317.1:p.Pro967Leu
XM_011535017.2:c.2432C>T	XP_011533319.1:p.Pro811Leu
XM_011535018.2:c.2432C>T	XP_011533320.1:p.Pro811Leu
XM_017020486.1:c.2741C>T	XP_016875975.1:p.Pro914Leu
XM_017020487.1:c.2432C>T	XP_016875976.1:p.Pro811Leu
XM_017020488.1:c.2078C>T	XP_016875977.1:p.Pro693Leu
XM_017020489.1:c.2060C>T	XP_016875978.1:p.Pro687Leu
NM_004119.3:c.2957C>T MANE Select	NP_004110.2:p.Pro986Leu
NR_130706.2:n.3155C>T