Canonical Allele Identifier: CA1458744319
Gene: KIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54733175T= , CM000666.2:g.54733175T= GRCh38
NC_000004.11:g.55599341T= , CM000666.1:g.55599341T= GRCh37
NC_000004.10:g.55294098T= NCBI36
NG_007456.1:g.80181T= , LRG_307:g.80181T=

Transcript Alleles

HGVS Amino-acid Change
NM_000222.3:c.2467T= MANE Select NP_000213.1:p.Tyr823=
ENST00000288135.6:c.2467T= MANE Select ENSP00000288135.6:p.Tyr823=
NM_000222.2:c.2467T= , LRG_307t1:c.2467T= NP_000213.1:p.Tyr823=
NM_001093772.1:c.2455T= NP_001087241.1:p.Tyr819=
NM_001093772.2:c.2455T= NP_001087241.1:p.Tyr819=
NM_001385284.1:c.2470T= NP_001372213.1:p.Tyr824=
NM_001385285.1:c.2464T= NP_001372214.1:p.Tyr822=
NM_001385286.1:c.2452T= NP_001372215.1:p.Tyr818=
NM_001385288.1:c.2458T= NP_001372217.1:p.Tyr820=
NM_001385290.1:c.2467T= NP_001372219.1:p.Tyr823=
NM_001385292.1:c.2455T= NP_001372221.1:p.Tyr819=
ENST00000288135.5:c.2467T= ENSP00000288135.5:p.Tyr823=
ENST00000412167.6:c.2455T= ENSP00000390987.2:p.Tyr819=
ENST00000412167.7:c.2455T= ENSP00000390987.3:p.Tyr819=
ENST00000512959.1:n.520T=
ENST00000685269.1:n.2545T=
ENST00000686011.1:c.2452T= ENSP00000509704.1:p.Tyr818=
ENST00000687109.1:c.2470T= ENSP00000509371.1:p.Tyr824=
ENST00000687208.1:n.2879T=
ENST00000687246.1:c.2349+1177T= ENSP00000509114.1:n.2349+1177T=
ENST00000687265.1:n.2625T=
ENST00000687295.1:c.2455T= ENSP00000509450.1:p.Tyr819=
ENST00000688060.1:n.264T=
ENST00000688704.1:n.1479T=
ENST00000689832.1:c.2467T= ENSP00000509084.1:p.Tyr823=
ENST00000689994.1:c.1957T= ENSP00000509156.1:p.Tyr653=
ENST00000690543.1:c.2458T= ENSP00000508831.1:p.Tyr820=
ENST00000690917.1:n.2685T=
ENST00000691361.1:n.1377T=
ENST00000692783.1:c.2464T= ENSP00000508733.1:p.Tyr822=
ENST00000692991.1:n.2564T=
XM_005265740.1:c.2470T= XP_005265797.1:p.Tyr824=
XM_005265741.1:c.2467T= XP_005265798.1:p.Tyr823=
XM_005265742.1:c.2458T= XP_005265799.1:p.Tyr820=
XM_005265742.3:c.2458T= XP_005265799.1:p.Tyr820=
XM_017008178.1:c.2464T= XP_016863667.1:p.Tyr822=
XM_017008179.1:c.2455T= XP_016863668.1:p.Tyr819=
XM_017008180.1:c.2452T= XP_016863669.1:p.Tyr818=