Canonical Allele Identifier: CA2706056720
Gene: KIT HGNC NCBI

Linked Data

dbSNP Id: rs2109812005

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54736649G>A , CM000666.2:g.54736649G>A GRCh38
NC_000004.11:g.55602815G>A , CM000666.1:g.55602815G>A GRCh37
NC_000004.10:g.55297572G>A NCBI36
NG_007456.1:g.83655G>A , LRG_307:g.83655G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.2584+40G>A ENSP00000390987.3:n.2584+40G>A
ENST00000684818.1:n.1288+40G>A
ENST00000685269.1:n.2674+40G>A
ENST00000686011.1:c.2581+40G>A ENSP00000509704.1:n.2581+40G>A
ENST00000687109.1:c.2599+40G>A ENSP00000509371.1:n.2599+40G>A
ENST00000687208.1:n.3008+40G>A
ENST00000687246.1:c.2461+40G>A ENSP00000509114.1:n.2461+40G>A
ENST00000687265.1:n.2754+40G>A
ENST00000687295.1:c.2584+40G>A ENSP00000509450.1:n.2584+40G>A
ENST00000688060.1:n.393+40G>A
ENST00000689832.1:c.2596+40G>A ENSP00000509084.1:n.2596+40G>A
ENST00000689994.1:c.2086+40G>A ENSP00000509156.1:n.2086+40G>A
ENST00000690543.1:c.2587+40G>A ENSP00000508831.1:n.2587+40G>A
ENST00000690917.1:n.2814+40G>A
ENST00000691361.1:n.1506+40G>A
ENST00000692301.1:n.1288+40G>A
ENST00000692783.1:c.2593+40G>A ENSP00000508733.1:n.2593+40G>A
ENST00000692991.1:n.2693+40G>A
ENST00000288135.6:c.2596+40G>A MANE Select ENSP00000288135.6:n.2596+40G>A
ENST00000288135.5:c.2596+40G>A ENSP00000288135.5:n.2596+40G>A
ENST00000412167.6:c.2584+40G>A ENSP00000390987.2:n.2584+40G>A
NM_000222.2:c.2596+40G>A , LRG_307t1:c.2596+40G>A NP_000213.1:n.2596+40G>A
NM_001093772.1:c.2584+40G>A NP_001087241.1:n.2584+40G>A
XM_005265740.1:c.2599+40G>A XP_005265797.1:n.2599+40G>A
XM_005265741.1:c.2596+40G>A XP_005265798.1:n.2596+40G>A
XM_005265742.1:c.2587+40G>A XP_005265799.1:n.2587+40G>A
XM_005265742.3:c.2587+40G>A XP_005265799.1:n.2587+40G>A
XM_017008178.1:c.2593+40G>A XP_016863667.1:n.2593+40G>A
XM_017008179.1:c.2584+40G>A XP_016863668.1:n.2584+40G>A
XM_017008180.1:c.2581+40G>A XP_016863669.1:n.2581+40G>A
NM_000222.3:c.2596+40G>A MANE Select NP_000213.1:n.2596+40G>A
NM_001093772.2:c.2584+40G>A NP_001087241.1:n.2584+40G>A
NM_001385284.1:c.2599+40G>A NP_001372213.1:n.2599+40G>A
NM_001385285.1:c.2593+40G>A NP_001372214.1:n.2593+40G>A
NM_001385286.1:c.2581+40G>A NP_001372215.1:n.2581+40G>A
NM_001385288.1:c.2587+40G>A NP_001372217.1:n.2587+40G>A
NM_001385290.1:c.2596+40G>A NP_001372219.1:n.2596+40G>A
NM_001385292.1:c.2584+40G>A NP_001372221.1:n.2584+40G>A