Canonical Allele Identifier: CA356913431
Gene: KIT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54736603T>G , CM000666.2:g.54736603T>G GRCh38
NC_000004.11:g.55602769T>G , CM000666.1:g.55602769T>G GRCh37
NC_000004.10:g.55297526T>G NCBI36
NG_007456.1:g.83609T>G , LRG_307:g.83609T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.2578T>G ENSP00000390987.3:p.Ser860Ala
ENST00000684818.1:n.1282T>G
ENST00000685269.1:n.2668T>G
ENST00000686011.1:c.2575T>G ENSP00000509704.1:p.Ser859Ala
ENST00000687109.1:c.2593T>G ENSP00000509371.1:p.Ser865Ala
ENST00000687208.1:n.3002T>G
ENST00000687246.1:c.2455T>G ENSP00000509114.1:p.Ser819Ala
ENST00000687265.1:n.2748T>G
ENST00000687295.1:c.2578T>G ENSP00000509450.1:p.Ser860Ala
ENST00000688060.1:n.387T>G
ENST00000689832.1:c.2590T>G ENSP00000509084.1:p.Ser864Ala
ENST00000689994.1:c.2080T>G ENSP00000509156.1:p.Ser694Ala
ENST00000690543.1:c.2581T>G ENSP00000508831.1:p.Ser861Ala
ENST00000690917.1:n.2808T>G
ENST00000691361.1:n.1500T>G
ENST00000692301.1:n.1282T>G
ENST00000692783.1:c.2587T>G ENSP00000508733.1:p.Ser863Ala
ENST00000692991.1:n.2687T>G
ENST00000288135.6:c.2590T>G MANE Select ENSP00000288135.6:p.Ser864Ala
ENST00000288135.5:c.2590T>G ENSP00000288135.5:p.Ser864Ala
ENST00000412167.6:c.2578T>G ENSP00000390987.2:p.Ser860Ala
NM_000222.2:c.2590T>G , LRG_307t1:c.2590T>G NP_000213.1:p.Ser864Ala
NM_001093772.1:c.2578T>G NP_001087241.1:p.Ser860Ala
XM_005265740.1:c.2593T>G XP_005265797.1:p.Ser865Ala
XM_005265741.1:c.2590T>G XP_005265798.1:p.Ser864Ala
XM_005265742.1:c.2581T>G XP_005265799.1:p.Ser861Ala
XM_005265742.3:c.2581T>G XP_005265799.1:p.Ser861Ala
XM_017008178.1:c.2587T>G XP_016863667.1:p.Ser863Ala
XM_017008179.1:c.2578T>G XP_016863668.1:p.Ser860Ala
XM_017008180.1:c.2575T>G XP_016863669.1:p.Ser859Ala
NM_000222.3:c.2590T>G MANE Select NP_000213.1:p.Ser864Ala
NM_001093772.2:c.2578T>G NP_001087241.1:p.Ser860Ala
NM_001385284.1:c.2593T>G NP_001372213.1:p.Ser865Ala
NM_001385285.1:c.2587T>G NP_001372214.1:p.Ser863Ala
NM_001385286.1:c.2575T>G NP_001372215.1:p.Ser859Ala
NM_001385288.1:c.2581T>G NP_001372217.1:p.Ser861Ala
NM_001385290.1:c.2590T>G NP_001372219.1:p.Ser864Ala
NM_001385292.1:c.2578T>G NP_001372221.1:p.Ser860Ala