Canonical Allele Identifier: CA356913354
Gene: KIT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54736589T>G , CM000666.2:g.54736589T>G GRCh38
NC_000004.11:g.55602755T>G , CM000666.1:g.55602755T>G GRCh37
NC_000004.10:g.55297512T>G NCBI36
NG_007456.1:g.83595T>G , LRG_307:g.83595T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.2564T>G ENSP00000390987.3:p.Leu855Arg
ENST00000684818.1:n.1268T>G
ENST00000685269.1:n.2654T>G
ENST00000686011.1:c.2561T>G ENSP00000509704.1:p.Leu854Arg
ENST00000687109.1:c.2579T>G ENSP00000509371.1:p.Leu860Arg
ENST00000687208.1:n.2988T>G
ENST00000687246.1:c.2441T>G ENSP00000509114.1:p.Leu814Arg
ENST00000687265.1:n.2734T>G
ENST00000687295.1:c.2564T>G ENSP00000509450.1:p.Leu855Arg
ENST00000688060.1:n.373T>G
ENST00000689832.1:c.2576T>G ENSP00000509084.1:p.Leu859Arg
ENST00000689994.1:c.2066T>G ENSP00000509156.1:p.Leu689Arg
ENST00000690543.1:c.2567T>G ENSP00000508831.1:p.Leu856Arg
ENST00000690917.1:n.2794T>G
ENST00000691361.1:n.1486T>G
ENST00000692301.1:n.1268T>G
ENST00000692783.1:c.2573T>G ENSP00000508733.1:p.Leu858Arg
ENST00000692991.1:n.2673T>G
ENST00000288135.6:c.2576T>G MANE Select ENSP00000288135.6:p.Leu859Arg
ENST00000288135.5:c.2576T>G ENSP00000288135.5:p.Leu859Arg
ENST00000412167.6:c.2564T>G ENSP00000390987.2:p.Leu855Arg
NM_000222.2:c.2576T>G , LRG_307t1:c.2576T>G NP_000213.1:p.Leu859Arg
NM_001093772.1:c.2564T>G NP_001087241.1:p.Leu855Arg
XM_005265740.1:c.2579T>G XP_005265797.1:p.Leu860Arg
XM_005265741.1:c.2576T>G XP_005265798.1:p.Leu859Arg
XM_005265742.1:c.2567T>G XP_005265799.1:p.Leu856Arg
XM_005265742.3:c.2567T>G XP_005265799.1:p.Leu856Arg
XM_017008178.1:c.2573T>G XP_016863667.1:p.Leu858Arg
XM_017008179.1:c.2564T>G XP_016863668.1:p.Leu855Arg
XM_017008180.1:c.2561T>G XP_016863669.1:p.Leu854Arg
NM_000222.3:c.2576T>G MANE Select NP_000213.1:p.Leu859Arg
NM_001093772.2:c.2564T>G NP_001087241.1:p.Leu855Arg
NM_001385284.1:c.2579T>G NP_001372213.1:p.Leu860Arg
NM_001385285.1:c.2573T>G NP_001372214.1:p.Leu858Arg
NM_001385286.1:c.2561T>G NP_001372215.1:p.Leu854Arg
NM_001385288.1:c.2567T>G NP_001372217.1:p.Leu856Arg
NM_001385290.1:c.2576T>G NP_001372219.1:p.Leu859Arg
NM_001385292.1:c.2564T>G NP_001372221.1:p.Leu855Arg