Canonical Allele Identifier: CA356912953
Gene: KIT HGNC NCBI

Linked Data

dbSNP Id: rs2109810980

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54736516T>G , CM000666.2:g.54736516T>G GRCh38
NC_000004.11:g.55602682T>G , CM000666.1:g.55602682T>G GRCh37
NC_000004.10:g.55297439T>G NCBI36
NG_007456.1:g.83522T>G , LRG_307:g.83522T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.2491T>G ENSP00000390987.3:p.Trp831Gly
ENST00000684818.1:n.1195T>G
ENST00000685269.1:n.2581T>G
ENST00000686011.1:c.2488T>G ENSP00000509704.1:p.Trp830Gly
ENST00000687109.1:c.2506T>G ENSP00000509371.1:p.Trp836Gly
ENST00000687208.1:n.2915T>G
ENST00000687246.1:c.2368T>G ENSP00000509114.1:p.Trp790Gly
ENST00000687265.1:n.2661T>G
ENST00000687295.1:c.2491T>G ENSP00000509450.1:p.Trp831Gly
ENST00000688060.1:n.300T>G
ENST00000689832.1:c.2503T>G ENSP00000509084.1:p.Trp835Gly
ENST00000689994.1:c.1993T>G ENSP00000509156.1:p.Trp665Gly
ENST00000690543.1:c.2494T>G ENSP00000508831.1:p.Trp832Gly
ENST00000690917.1:n.2721T>G
ENST00000691361.1:n.1413T>G
ENST00000692301.1:n.1195T>G
ENST00000692783.1:c.2500T>G ENSP00000508733.1:p.Trp834Gly
ENST00000692991.1:n.2600T>G
ENST00000288135.6:c.2503T>G MANE Select ENSP00000288135.6:p.Trp835Gly
ENST00000288135.5:c.2503T>G ENSP00000288135.5:p.Trp835Gly
ENST00000412167.6:c.2491T>G ENSP00000390987.2:p.Trp831Gly
NM_000222.2:c.2503T>G , LRG_307t1:c.2503T>G NP_000213.1:p.Trp835Gly
NM_001093772.1:c.2491T>G NP_001087241.1:p.Trp831Gly
XM_005265740.1:c.2506T>G XP_005265797.1:p.Trp836Gly
XM_005265741.1:c.2503T>G XP_005265798.1:p.Trp835Gly
XM_005265742.1:c.2494T>G XP_005265799.1:p.Trp832Gly
XM_005265742.3:c.2494T>G XP_005265799.1:p.Trp832Gly
XM_017008178.1:c.2500T>G XP_016863667.1:p.Trp834Gly
XM_017008179.1:c.2491T>G XP_016863668.1:p.Trp831Gly
XM_017008180.1:c.2488T>G XP_016863669.1:p.Trp830Gly
NM_000222.3:c.2503T>G MANE Select NP_000213.1:p.Trp835Gly
NM_001093772.2:c.2491T>G NP_001087241.1:p.Trp831Gly
NM_001385284.1:c.2506T>G NP_001372213.1:p.Trp836Gly
NM_001385285.1:c.2500T>G NP_001372214.1:p.Trp834Gly
NM_001385286.1:c.2488T>G NP_001372215.1:p.Trp830Gly
NM_001385288.1:c.2494T>G NP_001372217.1:p.Trp832Gly
NM_001385290.1:c.2503T>G NP_001372219.1:p.Trp835Gly
NM_001385292.1:c.2491T>G NP_001372221.1:p.Trp831Gly