Canonical Allele Identifier: CA2705788408
Gene: KIT HGNC NCBI

Linked Data

dbSNP Id: rs541119793

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54736651G>C , CM000666.2:g.54736651G>C GRCh38
NC_000004.11:g.55602817G>C , CM000666.1:g.55602817G>C GRCh37
NC_000004.10:g.55297574G>C NCBI36
NG_007456.1:g.83657G>C , LRG_307:g.83657G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.2584+42G>C ENSP00000390987.3:n.2584+42G>C
ENST00000684818.1:n.1288+42G>C
ENST00000685269.1:n.2674+42G>C
ENST00000686011.1:c.2581+42G>C ENSP00000509704.1:n.2581+42G>C
ENST00000687109.1:c.2599+42G>C ENSP00000509371.1:n.2599+42G>C
ENST00000687208.1:n.3008+42G>C
ENST00000687246.1:c.2461+42G>C ENSP00000509114.1:n.2461+42G>C
ENST00000687265.1:n.2754+42G>C
ENST00000687295.1:c.2584+42G>C ENSP00000509450.1:n.2584+42G>C
ENST00000688060.1:n.393+42G>C
ENST00000689832.1:c.2596+42G>C ENSP00000509084.1:n.2596+42G>C
ENST00000689994.1:c.2086+42G>C ENSP00000509156.1:n.2086+42G>C
ENST00000690543.1:c.2587+42G>C ENSP00000508831.1:n.2587+42G>C
ENST00000690917.1:n.2814+42G>C
ENST00000691361.1:n.1506+42G>C
ENST00000692301.1:n.1288+42G>C
ENST00000692783.1:c.2593+42G>C ENSP00000508733.1:n.2593+42G>C
ENST00000692991.1:n.2693+42G>C
ENST00000288135.6:c.2596+42G>C MANE Select ENSP00000288135.6:n.2596+42G>C
ENST00000288135.5:c.2596+42G>C ENSP00000288135.5:n.2596+42G>C
ENST00000412167.6:c.2584+42G>C ENSP00000390987.2:n.2584+42G>C
NM_000222.2:c.2596+42G>C , LRG_307t1:c.2596+42G>C NP_000213.1:n.2596+42G>C
NM_001093772.1:c.2584+42G>C NP_001087241.1:n.2584+42G>C
XM_005265740.1:c.2599+42G>C XP_005265797.1:n.2599+42G>C
XM_005265741.1:c.2596+42G>C XP_005265798.1:n.2596+42G>C
XM_005265742.1:c.2587+42G>C XP_005265799.1:n.2587+42G>C
XM_005265742.3:c.2587+42G>C XP_005265799.1:n.2587+42G>C
XM_017008178.1:c.2593+42G>C XP_016863667.1:n.2593+42G>C
XM_017008179.1:c.2584+42G>C XP_016863668.1:n.2584+42G>C
XM_017008180.1:c.2581+42G>C XP_016863669.1:n.2581+42G>C
NM_000222.3:c.2596+42G>C MANE Select NP_000213.1:n.2596+42G>C
NM_001093772.2:c.2584+42G>C NP_001087241.1:n.2584+42G>C
NM_001385284.1:c.2599+42G>C NP_001372213.1:n.2599+42G>C
NM_001385285.1:c.2593+42G>C NP_001372214.1:n.2593+42G>C
NM_001385286.1:c.2581+42G>C NP_001372215.1:n.2581+42G>C
NM_001385288.1:c.2587+42G>C NP_001372217.1:n.2587+42G>C
NM_001385290.1:c.2596+42G>C NP_001372219.1:n.2596+42G>C
NM_001385292.1:c.2584+42G>C NP_001372221.1:n.2584+42G>C