Canonical Allele Identifier: CA16602408

Gene: KIT

Linked Data

• ClinVar Variation Id: 375928
• ClinVar RCV Id: RCV000437969 ; RCV003525898
• dbSNP Id: rs1057519710
• COSMIC: COSM12710
• MyVariant Identifiers: chr4:g.55599332G>T (hg19) ; chr4:g.54733166G>T (hg38)
• PubMed: PMID:20088873 ; PMID:21642685 ; PMID:23775962
• CIViC: CA16602408

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733166G>T , CM000666.2:g.54733166G>T	GRCh38
NC_000004.11:g.55599332G>T , CM000666.1:g.55599332G>T	GRCh37
NC_000004.10:g.55294089G>T	NCBI36
NG_007456.1:g.80172G>T , LRG_307:g.80172G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000412167.7:c.2446G>T	ENSP00000390987.3:p.Asp816Tyr
ENST00000685269.1:n.2536G>T
ENST00000686011.1:c.2443G>T	ENSP00000509704.1:p.Asp815Tyr
ENST00000687109.1:c.2461G>T	ENSP00000509371.1:p.Asp821Tyr
ENST00000687208.1:n.2870G>T
ENST00000687246.1:c.2349+1168G>T	ENSP00000509114.1:n.2349+1168G>T
ENST00000687265.1:n.2616G>T
ENST00000687295.1:c.2446G>T	ENSP00000509450.1:p.Asp816Tyr
ENST00000688060.1:n.255G>T
ENST00000688704.1:n.1470G>T
ENST00000689832.1:c.2458G>T	ENSP00000509084.1:p.Asp820Tyr
ENST00000689994.1:c.1948G>T	ENSP00000509156.1:p.Asp650Tyr
ENST00000690543.1:c.2449G>T	ENSP00000508831.1:p.Asp817Tyr
ENST00000690917.1:n.2676G>T
ENST00000691361.1:n.1368G>T
ENST00000692783.1:c.2455G>T	ENSP00000508733.1:p.Asp819Tyr
ENST00000692991.1:n.2555G>T
ENST00000288135.6:c.2458G>T MANE Select	ENSP00000288135.6:p.Asp820Tyr
ENST00000288135.5:c.2458G>T	ENSP00000288135.5:p.Asp820Tyr
ENST00000412167.6:c.2446G>T	ENSP00000390987.2:p.Asp816Tyr
ENST00000512959.1:n.511G>T
NM_000222.2:c.2458G>T , LRG_307t1:c.2458G>T	NP_000213.1:p.Asp820Tyr
NM_001093772.1:c.2446G>T	NP_001087241.1:p.Asp816Tyr
XM_005265740.1:c.2461G>T	XP_005265797.1:p.Asp821Tyr
XM_005265741.1:c.2458G>T	XP_005265798.1:p.Asp820Tyr
XM_005265742.1:c.2449G>T	XP_005265799.1:p.Asp817Tyr
XM_005265742.3:c.2449G>T	XP_005265799.1:p.Asp817Tyr
XM_017008178.1:c.2455G>T	XP_016863667.1:p.Asp819Tyr
XM_017008179.1:c.2446G>T	XP_016863668.1:p.Asp816Tyr
XM_017008180.1:c.2443G>T	XP_016863669.1:p.Asp815Tyr
NM_000222.3:c.2458G>T MANE Select	NP_000213.1:p.Asp820Tyr
NM_001093772.2:c.2446G>T	NP_001087241.1:p.Asp816Tyr
NM_001385284.1:c.2461G>T	NP_001372213.1:p.Asp821Tyr
NM_001385285.1:c.2455G>T	NP_001372214.1:p.Asp819Tyr
NM_001385286.1:c.2443G>T	NP_001372215.1:p.Asp815Tyr
NM_001385288.1:c.2449G>T	NP_001372217.1:p.Asp817Tyr
NM_001385290.1:c.2458G>T	NP_001372219.1:p.Asp820Tyr
NM_001385292.1:c.2446G>T	NP_001372221.1:p.Asp816Tyr