Canonical Allele Identifier: CA159846
Gene: FLT3 HGNC NCBI

Linked Data

ClinVar Variation Id: 134447
ClinVar RCV Id: RCV000121129
dbSNP Id: rs1933437
ExAC: 13:28624294 G / A
gnomAD v2: 13-28624294-G-A
gnomAD v3: 13-28050157-G-A
gnomAD v4: 13-28050157-G-A
MyVariant Identifiers: chr13:g.28624294G>A (hg19) chr13:g.28050157G>A (hg38)
PubMed: PMID:24728327
Allelic Epigenome: Alellic Epigenome (raw data)
CIViC: CA159846
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28050157G>A , CM000675.2:g.28050157G>A GRCh38
NC_000013.10:g.28624294G>A , CM000675.1:g.28624294G>A GRCh37
NC_000013.9:g.27522294G>A NCBI36
NG_007066.1:g.55412C>T , LRG_457:g.55412C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000241453.12:c.680C>T MANE Select ENSP00000241453.7:p.Thr227Met
ENST00000241453.11:c.680C>T ENSP00000241453.7:p.Thr227Met
ENST00000380987.2:c.680C>T ENSP00000370374.2:p.Thr227Met
NM_004119.2:c.680C>T , LRG_457t1:c.680C>T NP_004110.2:p.Thr227Met
NR_130706.1:n.762C>T
XM_011535015.1:c.623C>T XP_011533317.1:p.Thr208Met
XM_011535016.1:c.155C>T XP_011533318.1:p.Thr52Met
XM_011535017.1:c.155C>T XP_011533319.1:p.Thr52Met
XM_011535018.1:c.155C>T XP_011533320.1:p.Thr52Met
XM_011535015.2:c.623C>T XP_011533317.1:p.Thr208Met
XM_011535017.2:c.155C>T XP_011533319.1:p.Thr52Met
XM_011535018.2:c.155C>T XP_011533320.1:p.Thr52Met
XM_017020486.1:c.680C>T XP_016875975.1:p.Thr227Met
XM_017020487.1:c.155C>T XP_016875976.1:p.Thr52Met
XM_017020488.1:c.-124C>T XP_016875977.1:n.-124C>T
XM_017020489.1:c.-218C>T XP_016875978.1:n.-218C>T
NM_004119.3:c.680C>T MANE Select NP_004110.2:p.Thr227Met
NR_130706.2:n.746C>T
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