Canonical Allele Identifier: CA356912901
Gene: KIT HGNC NCBI

Linked Data

dbSNP Id: rs2109810899

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54736507C>G , CM000666.2:g.54736507C>G GRCh38
NC_000004.11:g.55602673C>G , CM000666.1:g.55602673C>G GRCh37
NC_000004.10:g.55297430C>G NCBI36
NG_007456.1:g.83513C>G , LRG_307:g.83513C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.2482C>G ENSP00000390987.3:p.Pro828Ala
ENST00000684818.1:n.1186C>G
ENST00000685269.1:n.2572C>G
ENST00000686011.1:c.2479C>G ENSP00000509704.1:p.Pro827Ala
ENST00000687109.1:c.2497C>G ENSP00000509371.1:p.Pro833Ala
ENST00000687208.1:n.2906C>G
ENST00000687246.1:c.2359C>G ENSP00000509114.1:p.Pro787Ala
ENST00000687265.1:n.2652C>G
ENST00000687295.1:c.2482C>G ENSP00000509450.1:p.Pro828Ala
ENST00000688060.1:n.291C>G
ENST00000689832.1:c.2494C>G ENSP00000509084.1:p.Pro832Ala
ENST00000689994.1:c.1984C>G ENSP00000509156.1:p.Pro662Ala
ENST00000690543.1:c.2485C>G ENSP00000508831.1:p.Pro829Ala
ENST00000690917.1:n.2712C>G
ENST00000691361.1:n.1404C>G
ENST00000692301.1:n.1186C>G
ENST00000692783.1:c.2491C>G ENSP00000508733.1:p.Pro831Ala
ENST00000692991.1:n.2591C>G
ENST00000288135.6:c.2494C>G MANE Select ENSP00000288135.6:p.Pro832Ala
ENST00000288135.5:c.2494C>G ENSP00000288135.5:p.Pro832Ala
ENST00000412167.6:c.2482C>G ENSP00000390987.2:p.Pro828Ala
NM_000222.2:c.2494C>G , LRG_307t1:c.2494C>G NP_000213.1:p.Pro832Ala
NM_001093772.1:c.2482C>G NP_001087241.1:p.Pro828Ala
XM_005265740.1:c.2497C>G XP_005265797.1:p.Pro833Ala
XM_005265741.1:c.2494C>G XP_005265798.1:p.Pro832Ala
XM_005265742.1:c.2485C>G XP_005265799.1:p.Pro829Ala
XM_005265742.3:c.2485C>G XP_005265799.1:p.Pro829Ala
XM_017008178.1:c.2491C>G XP_016863667.1:p.Pro831Ala
XM_017008179.1:c.2482C>G XP_016863668.1:p.Pro828Ala
XM_017008180.1:c.2479C>G XP_016863669.1:p.Pro827Ala
NM_000222.3:c.2494C>G MANE Select NP_000213.1:p.Pro832Ala
NM_001093772.2:c.2482C>G NP_001087241.1:p.Pro828Ala
NM_001385284.1:c.2497C>G NP_001372213.1:p.Pro833Ala
NM_001385285.1:c.2491C>G NP_001372214.1:p.Pro831Ala
NM_001385286.1:c.2479C>G NP_001372215.1:p.Pro827Ala
NM_001385288.1:c.2485C>G NP_001372217.1:p.Pro829Ala
NM_001385290.1:c.2494C>G NP_001372219.1:p.Pro832Ala
NM_001385292.1:c.2482C>G NP_001372221.1:p.Pro828Ala