Canonical Allele Identifier: CA356911337

Gene: KIT

Linked Data

• ClinVar Variation Id: 2831562
• ClinVar RCV Id: RCV003639978
• dbSNP Id: rs2109800945
• COSMIC: COSM5749958
• MyVariant Identifiers: chr4:g.55599237G>A (hg19) ; chr4:g.54733071G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733071G>A , CM000666.2:g.54733071G>A	GRCh38
NC_000004.11:g.55599237G>A , CM000666.1:g.55599237G>A	GRCh37
NC_000004.10:g.55293994G>A	NCBI36
NG_007456.1:g.80077G>A , LRG_307:g.80077G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000412167.7:c.2351G>A	ENSP00000390987.3:p.Cys784Tyr
ENST00000685269.1:n.2441G>A
ENST00000686011.1:c.2348G>A	ENSP00000509704.1:p.Cys783Tyr
ENST00000687109.1:c.2366G>A	ENSP00000509371.1:p.Cys789Tyr
ENST00000687208.1:n.2775G>A
ENST00000687246.1:c.2349+1073G>A	ENSP00000509114.1:n.2349+1073G>A
ENST00000687265.1:n.2521G>A
ENST00000687295.1:c.2351G>A	ENSP00000509450.1:p.Cys784Tyr
ENST00000688060.1:n.160G>A
ENST00000688704.1:n.1375G>A
ENST00000689832.1:c.2363G>A	ENSP00000509084.1:p.Cys788Tyr
ENST00000689994.1:c.1853G>A	ENSP00000509156.1:p.Cys618Tyr
ENST00000690543.1:c.2354G>A	ENSP00000508831.1:p.Cys785Tyr
ENST00000690917.1:n.2581G>A
ENST00000691361.1:n.1273G>A
ENST00000692783.1:c.2360G>A	ENSP00000508733.1:p.Cys787Tyr
ENST00000692991.1:n.2460G>A
ENST00000288135.6:c.2363G>A MANE Select	ENSP00000288135.6:p.Cys788Tyr
ENST00000288135.5:c.2363G>A	ENSP00000288135.5:p.Cys788Tyr
ENST00000412167.6:c.2351G>A	ENSP00000390987.2:p.Cys784Tyr
ENST00000512959.1:n.416G>A
NM_000222.2:c.2363G>A , LRG_307t1:c.2363G>A	NP_000213.1:p.Cys788Tyr
NM_001093772.1:c.2351G>A	NP_001087241.1:p.Cys784Tyr
XM_005265740.1:c.2366G>A	XP_005265797.1:p.Cys789Tyr
XM_005265741.1:c.2363G>A	XP_005265798.1:p.Cys788Tyr
XM_005265742.1:c.2354G>A	XP_005265799.1:p.Cys785Tyr
XM_005265742.3:c.2354G>A	XP_005265799.1:p.Cys785Tyr
XM_017008178.1:c.2360G>A	XP_016863667.1:p.Cys787Tyr
XM_017008179.1:c.2351G>A	XP_016863668.1:p.Cys784Tyr
XM_017008180.1:c.2348G>A	XP_016863669.1:p.Cys783Tyr
NM_000222.3:c.2363G>A MANE Select	NP_000213.1:p.Cys788Tyr
NM_001093772.2:c.2351G>A	NP_001087241.1:p.Cys784Tyr
NM_001385284.1:c.2366G>A	NP_001372213.1:p.Cys789Tyr
NM_001385285.1:c.2360G>A	NP_001372214.1:p.Cys787Tyr
NM_001385286.1:c.2348G>A	NP_001372215.1:p.Cys783Tyr
NM_001385288.1:c.2354G>A	NP_001372217.1:p.Cys785Tyr
NM_001385290.1:c.2363G>A	NP_001372219.1:p.Cys788Tyr
NM_001385292.1:c.2351G>A	NP_001372221.1:p.Cys784Tyr