Canonical Allele Identifier: CA6928319

Gene: FLT3

Linked Data

• dbSNP Id: rs755081448
• ExAC: 13:28592723 C / T
• gnomAD v2: 13-28592723-C-T
• gnomAD v4: 13-28018586-C-T
• COSMIC: COSM6342205
• MyVariant Identifiers: chr13:g.28592723C>T (hg19) ; chr13:g.28018586C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28018586C>T , CM000675.2:g.28018586C>T	GRCh38
NC_000013.10:g.28592723C>T , CM000675.1:g.28592723C>T	GRCh37
NC_000013.9:g.27490723C>T	NCBI36
NG_007066.1:g.86983G>A , LRG_457:g.86983G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241453.12:c.2422G>A MANE Select	ENSP00000241453.7:p.Val808Ile
ENST00000241453.11:c.2422G>A	ENSP00000241453.7:p.Val808Ile
ENST00000380987.2:c.*334G>A	ENSP00000370374.2:n.*334G>A
NM_004119.2:c.2422G>A , LRG_457t1:c.2422G>A	NP_004110.2:p.Val808Ile
NR_130706.1:n.2636G>A
XM_011535015.1:c.2365G>A	XP_011533317.1:p.Val789Ile
XM_011535016.1:c.1897G>A	XP_011533318.1:p.Val633Ile
XM_011535017.1:c.1897G>A	XP_011533319.1:p.Val633Ile
XM_011535018.1:c.1897G>A	XP_011533320.1:p.Val633Ile
XM_011535015.2:c.2365G>A	XP_011533317.1:p.Val789Ile
XM_011535017.2:c.1897G>A	XP_011533319.1:p.Val633Ile
XM_011535018.2:c.1897G>A	XP_011533320.1:p.Val633Ile
XM_017020486.1:c.2206G>A	XP_016875975.1:p.Val736Ile
XM_017020487.1:c.1897G>A	XP_016875976.1:p.Val633Ile
XM_017020488.1:c.1543G>A	XP_016875977.1:p.Val515Ile
XM_017020489.1:c.1525G>A	XP_016875978.1:p.Val509Ile
NM_004119.3:c.2422G>A MANE Select	NP_004110.2:p.Val808Ile
NR_130706.2:n.2620G>A