Canonical Allele Identifier: CA1458744292
Gene: KIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54733170C= , CM000666.2:g.54733170C= GRCh38
NC_000004.11:g.55599336C= , CM000666.1:g.55599336C= GRCh37
NC_000004.10:g.55294093C= NCBI36
NG_007456.1:g.80176C= , LRG_307:g.80176C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.2450C= ENSP00000390987.3:p.Ser817=
ENST00000685269.1:n.2540C=
ENST00000686011.1:c.2447C= ENSP00000509704.1:p.Ser816=
ENST00000687109.1:c.2465C= ENSP00000509371.1:p.Ser822=
ENST00000687208.1:n.2874C=
ENST00000687246.1:c.2349+1172C= ENSP00000509114.1:n.2349+1172C=
ENST00000687265.1:n.2620C=
ENST00000687295.1:c.2450C= ENSP00000509450.1:p.Ser817=
ENST00000688060.1:n.259C=
ENST00000688704.1:n.1474C=
ENST00000689832.1:c.2462C= ENSP00000509084.1:p.Ser821=
ENST00000689994.1:c.1952C= ENSP00000509156.1:p.Ser651=
ENST00000690543.1:c.2453C= ENSP00000508831.1:p.Ser818=
ENST00000690917.1:n.2680C=
ENST00000691361.1:n.1372C=
ENST00000692783.1:c.2459C= ENSP00000508733.1:p.Ser820=
ENST00000692991.1:n.2559C=
ENST00000288135.6:c.2462C= MANE Select ENSP00000288135.6:p.Ser821=
ENST00000288135.5:c.2462C= ENSP00000288135.5:p.Ser821=
ENST00000412167.6:c.2450C= ENSP00000390987.2:p.Ser817=
ENST00000512959.1:n.515C=
NM_000222.2:c.2462C= , LRG_307t1:c.2462C= NP_000213.1:p.Ser821=
NM_001093772.1:c.2450C= NP_001087241.1:p.Ser817=
XM_005265740.1:c.2465C= XP_005265797.1:p.Ser822=
XM_005265741.1:c.2462C= XP_005265798.1:p.Ser821=
XM_005265742.1:c.2453C= XP_005265799.1:p.Ser818=
XM_005265742.3:c.2453C= XP_005265799.1:p.Ser818=
XM_017008178.1:c.2459C= XP_016863667.1:p.Ser820=
XM_017008179.1:c.2450C= XP_016863668.1:p.Ser817=
XM_017008180.1:c.2447C= XP_016863669.1:p.Ser816=
NM_000222.3:c.2462C= MANE Select NP_000213.1:p.Ser821=
NM_001093772.2:c.2450C= NP_001087241.1:p.Ser817=
NM_001385284.1:c.2465C= NP_001372213.1:p.Ser822=
NM_001385285.1:c.2459C= NP_001372214.1:p.Ser820=
NM_001385286.1:c.2447C= NP_001372215.1:p.Ser816=
NM_001385288.1:c.2453C= NP_001372217.1:p.Ser818=
NM_001385290.1:c.2462C= NP_001372219.1:p.Ser821=
NM_001385292.1:c.2450C= NP_001372221.1:p.Ser817=