Canonical Allele Identifier: CA159828

Gene: FLT3

Linked Data

• ClinVar Variation Id: 134441
• ClinVar RCV Id: RCV000121123 ; RCV000884013
• dbSNP Id: rs74041526
• ExAC: 13:28578209 C / G
• gnomAD v2: 13-28578209-C-G
• gnomAD v3: 13-28004072-C-G
• gnomAD v4: 13-28004072-C-G
• MyVariant Identifiers: chr13:g.28578209C>G (hg19) ; chr13:g.28004072C>G (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28004072C>G , CM000675.2:g.28004072C>G	GRCh38
NC_000013.10:g.28578209C>G , CM000675.1:g.28578209C>G	GRCh37
NC_000013.9:g.27476209C>G	NCBI36
NG_007066.1:g.101497G>C , LRG_457:g.101497G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241453.12:c.2962G>C MANE Select	ENSP00000241453.7:p.Ala988Pro
ENST00000241453.11:c.2962G>C	ENSP00000241453.7:p.Ala988Pro
ENST00000380987.2:c.*874G>C	ENSP00000370374.2:n.*874G>C
ENST00000469894.1:n.349G>C
NM_004119.2:c.2962G>C , LRG_457t1:c.2962G>C	NP_004110.2:p.Ala988Pro
NR_130706.1:n.3176G>C
XM_011535015.1:c.2905G>C	XP_011533317.1:p.Ala969Pro
XM_011535016.1:c.2437G>C	XP_011533318.1:p.Ala813Pro
XM_011535017.1:c.2437G>C	XP_011533319.1:p.Ala813Pro
XM_011535018.1:c.2437G>C	XP_011533320.1:p.Ala813Pro
XM_011535015.2:c.2905G>C	XP_011533317.1:p.Ala969Pro
XM_011535017.2:c.2437G>C	XP_011533319.1:p.Ala813Pro
XM_011535018.2:c.2437G>C	XP_011533320.1:p.Ala813Pro
XM_017020486.1:c.2746G>C	XP_016875975.1:p.Ala916Pro
XM_017020487.1:c.2437G>C	XP_016875976.1:p.Ala813Pro
XM_017020488.1:c.2083G>C	XP_016875977.1:p.Ala695Pro
XM_017020489.1:c.2065G>C	XP_016875978.1:p.Ala689Pro
NM_004119.3:c.2962G>C MANE Select	NP_004110.2:p.Ala988Pro
NR_130706.2:n.3160G>C