Canonical Allele Identifier: CA1458744338
Gene: KIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54733182T= , CM000666.2:g.54733182T= GRCh38
NC_000004.11:g.55599348T= , CM000666.1:g.55599348T= GRCh37
NC_000004.10:g.55294105T= NCBI36
NG_007456.1:g.80188T= , LRG_307:g.80188T=

Transcript Alleles

HGVS Amino-acid Change
NM_000222.3:c.2474T= MANE Select NP_000213.1:p.Val825=
ENST00000288135.6:c.2474T= MANE Select ENSP00000288135.6:p.Val825=
NM_000222.2:c.2474T= , LRG_307t1:c.2474T= NP_000213.1:p.Val825=
NM_001093772.1:c.2462T= NP_001087241.1:p.Val821=
NM_001093772.2:c.2462T= NP_001087241.1:p.Val821=
NM_001385284.1:c.2477T= NP_001372213.1:p.Val826=
NM_001385285.1:c.2471T= NP_001372214.1:p.Val824=
NM_001385286.1:c.2459T= NP_001372215.1:p.Val820=
NM_001385288.1:c.2465T= NP_001372217.1:p.Val822=
NM_001385290.1:c.2474T= NP_001372219.1:p.Val825=
NM_001385292.1:c.2462T= NP_001372221.1:p.Val821=
ENST00000288135.5:c.2474T= ENSP00000288135.5:p.Val825=
ENST00000412167.6:c.2462T= ENSP00000390987.2:p.Val821=
ENST00000412167.7:c.2462T= ENSP00000390987.3:p.Val821=
ENST00000512959.1:n.527T=
ENST00000685269.1:n.2552T=
ENST00000686011.1:c.2459T= ENSP00000509704.1:p.Val820=
ENST00000687109.1:c.2477T= ENSP00000509371.1:p.Val826=
ENST00000687208.1:n.2886T=
ENST00000687246.1:c.2349+1184T= ENSP00000509114.1:n.2349+1184T=
ENST00000687265.1:n.2632T=
ENST00000687295.1:c.2462T= ENSP00000509450.1:p.Val821=
ENST00000688060.1:n.271T=
ENST00000688704.1:n.1486T=
ENST00000689832.1:c.2474T= ENSP00000509084.1:p.Val825=
ENST00000689994.1:c.1964T= ENSP00000509156.1:p.Val655=
ENST00000690543.1:c.2465T= ENSP00000508831.1:p.Val822=
ENST00000690917.1:n.2692T=
ENST00000691361.1:n.1384T=
ENST00000692783.1:c.2471T= ENSP00000508733.1:p.Val824=
ENST00000692991.1:n.2571T=
XM_005265740.1:c.2477T= XP_005265797.1:p.Val826=
XM_005265741.1:c.2474T= XP_005265798.1:p.Val825=
XM_005265742.1:c.2465T= XP_005265799.1:p.Val822=
XM_005265742.3:c.2465T= XP_005265799.1:p.Val822=
XM_017008178.1:c.2471T= XP_016863667.1:p.Val824=
XM_017008179.1:c.2462T= XP_016863668.1:p.Val821=
XM_017008180.1:c.2459T= XP_016863669.1:p.Val820=