Canonical Allele Identifier: CA356912996
Gene: KIT HGNC NCBI

Linked Data

dbSNP Id: rs2109811038

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54736522G>C , CM000666.2:g.54736522G>C GRCh38
NC_000004.11:g.55602688G>C , CM000666.1:g.55602688G>C GRCh37
NC_000004.10:g.55297445G>C NCBI36
NG_007456.1:g.83528G>C , LRG_307:g.83528G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.2497G>C ENSP00000390987.3:p.Ala833Pro
ENST00000684818.1:n.1201G>C
ENST00000685269.1:n.2587G>C
ENST00000686011.1:c.2494G>C ENSP00000509704.1:p.Ala832Pro
ENST00000687109.1:c.2512G>C ENSP00000509371.1:p.Ala838Pro
ENST00000687208.1:n.2921G>C
ENST00000687246.1:c.2374G>C ENSP00000509114.1:p.Ala792Pro
ENST00000687265.1:n.2667G>C
ENST00000687295.1:c.2497G>C ENSP00000509450.1:p.Ala833Pro
ENST00000688060.1:n.306G>C
ENST00000689832.1:c.2509G>C ENSP00000509084.1:p.Ala837Pro
ENST00000689994.1:c.1999G>C ENSP00000509156.1:p.Ala667Pro
ENST00000690543.1:c.2500G>C ENSP00000508831.1:p.Ala834Pro
ENST00000690917.1:n.2727G>C
ENST00000691361.1:n.1419G>C
ENST00000692301.1:n.1201G>C
ENST00000692783.1:c.2506G>C ENSP00000508733.1:p.Ala836Pro
ENST00000692991.1:n.2606G>C
ENST00000288135.6:c.2509G>C MANE Select ENSP00000288135.6:p.Ala837Pro
ENST00000288135.5:c.2509G>C ENSP00000288135.5:p.Ala837Pro
ENST00000412167.6:c.2497G>C ENSP00000390987.2:p.Ala833Pro
NM_000222.2:c.2509G>C , LRG_307t1:c.2509G>C NP_000213.1:p.Ala837Pro
NM_001093772.1:c.2497G>C NP_001087241.1:p.Ala833Pro
XM_005265740.1:c.2512G>C XP_005265797.1:p.Ala838Pro
XM_005265741.1:c.2509G>C XP_005265798.1:p.Ala837Pro
XM_005265742.1:c.2500G>C XP_005265799.1:p.Ala834Pro
XM_005265742.3:c.2500G>C XP_005265799.1:p.Ala834Pro
XM_017008178.1:c.2506G>C XP_016863667.1:p.Ala836Pro
XM_017008179.1:c.2497G>C XP_016863668.1:p.Ala833Pro
XM_017008180.1:c.2494G>C XP_016863669.1:p.Ala832Pro
NM_000222.3:c.2509G>C MANE Select NP_000213.1:p.Ala837Pro
NM_001093772.2:c.2497G>C NP_001087241.1:p.Ala833Pro
NM_001385284.1:c.2512G>C NP_001372213.1:p.Ala838Pro
NM_001385285.1:c.2506G>C NP_001372214.1:p.Ala836Pro
NM_001385286.1:c.2494G>C NP_001372215.1:p.Ala832Pro
NM_001385288.1:c.2500G>C NP_001372217.1:p.Ala834Pro
NM_001385290.1:c.2509G>C NP_001372219.1:p.Ala837Pro
NM_001385292.1:c.2497G>C NP_001372221.1:p.Ala833Pro