Canonical Allele Identifier: CA1458747066
Gene: KIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54736498G= , CM000666.2:g.54736498G= GRCh38
NC_000004.11:g.55602664G= , CM000666.1:g.55602664G= GRCh37
NC_000004.10:g.55297421G= NCBI36
NG_007456.1:g.83504G= , LRG_307:g.83504G=

Transcript Alleles

HGVS Amino-acid Change
NM_000222.3:c.2485G= MANE Select NP_000213.1:p.Ala829=
ENST00000288135.6:c.2485G= MANE Select ENSP00000288135.6:p.Ala829=
NM_000222.2:c.2485G= , LRG_307t1:c.2485G= NP_000213.1:p.Ala829=
NM_001093772.1:c.2473G= NP_001087241.1:p.Ala825=
NM_001093772.2:c.2473G= NP_001087241.1:p.Ala825=
NM_001385284.1:c.2488G= NP_001372213.1:p.Ala830=
NM_001385285.1:c.2482G= NP_001372214.1:p.Ala828=
NM_001385286.1:c.2470G= NP_001372215.1:p.Ala824=
NM_001385288.1:c.2476G= NP_001372217.1:p.Ala826=
NM_001385290.1:c.2485G= NP_001372219.1:p.Ala829=
NM_001385292.1:c.2473G= NP_001372221.1:p.Ala825=
ENST00000288135.5:c.2485G= ENSP00000288135.5:p.Ala829=
ENST00000412167.6:c.2473G= ENSP00000390987.2:p.Ala825=
ENST00000412167.7:c.2473G= ENSP00000390987.3:p.Ala825=
ENST00000684818.1:n.1177G=
ENST00000685269.1:n.2563G=
ENST00000686011.1:c.2470G= ENSP00000509704.1:p.Ala824=
ENST00000687109.1:c.2488G= ENSP00000509371.1:p.Ala830=
ENST00000687208.1:n.2897G=
ENST00000687246.1:c.2350G= ENSP00000509114.1:p.Ala784=
ENST00000687265.1:n.2643G=
ENST00000687295.1:c.2473G= ENSP00000509450.1:p.Ala825=
ENST00000688060.1:n.282G=
ENST00000689832.1:c.2485G= ENSP00000509084.1:p.Ala829=
ENST00000689994.1:c.1975G= ENSP00000509156.1:p.Ala659=
ENST00000690543.1:c.2476G= ENSP00000508831.1:p.Ala826=
ENST00000690917.1:n.2703G=
ENST00000691361.1:n.1395G=
ENST00000692301.1:n.1177G=
ENST00000692783.1:c.2482G= ENSP00000508733.1:p.Ala828=
ENST00000692991.1:n.2582G=
XM_005265740.1:c.2488G= XP_005265797.1:p.Ala830=
XM_005265741.1:c.2485G= XP_005265798.1:p.Ala829=
XM_005265742.1:c.2476G= XP_005265799.1:p.Ala826=
XM_005265742.3:c.2476G= XP_005265799.1:p.Ala826=
XM_017008178.1:c.2482G= XP_016863667.1:p.Ala828=
XM_017008179.1:c.2473G= XP_016863668.1:p.Ala825=
XM_017008180.1:c.2470G= XP_016863669.1:p.Ala824=