Canonical Allele Identifier: CA3112215374
Gene: KIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54733162G= , CM000666.2:g.54733162G= GRCh38
NC_000004.11:g.55599328G= , CM000666.1:g.55599328G= GRCh37
NC_000004.10:g.55294085G= NCBI36
NG_007456.1:g.80168G= , LRG_307:g.80168G=

Transcript Alleles

HGVS Amino-acid Change
NM_000222.3:c.2454G= MANE Select NP_000213.1:p.Lys818=
ENST00000288135.6:c.2454G= MANE Select ENSP00000288135.6:p.Lys818=
NM_000222.2:c.2454G= , LRG_307t1:c.2454G= NP_000213.1:p.Lys818=
NM_001093772.1:c.2442G= NP_001087241.1:p.Lys814=
NM_001093772.2:c.2442G= NP_001087241.1:p.Lys814=
NM_001385284.1:c.2457G= NP_001372213.1:p.Lys819=
NM_001385285.1:c.2451G= NP_001372214.1:p.Lys817=
NM_001385286.1:c.2439G= NP_001372215.1:p.Lys813=
NM_001385288.1:c.2445G= NP_001372217.1:p.Lys815=
NM_001385290.1:c.2454G= NP_001372219.1:p.Lys818=
NM_001385292.1:c.2442G= NP_001372221.1:p.Lys814=
ENST00000288135.5:c.2454G= ENSP00000288135.5:p.Lys818=
ENST00000412167.6:c.2442G= ENSP00000390987.2:p.Lys814=
ENST00000412167.7:c.2442G= ENSP00000390987.3:p.Lys814=
ENST00000512959.1:n.507G=
ENST00000685269.1:n.2532G=
ENST00000686011.1:c.2439G= ENSP00000509704.1:p.Lys813=
ENST00000687109.1:c.2457G= ENSP00000509371.1:p.Lys819=
ENST00000687208.1:n.2866G=
ENST00000687246.1:c.2349+1164G= ENSP00000509114.1:n.2349+1164G=
ENST00000687265.1:n.2612G=
ENST00000687295.1:c.2442G= ENSP00000509450.1:p.Lys814=
ENST00000688060.1:n.251G=
ENST00000688704.1:n.1466G=
ENST00000689832.1:c.2454G= ENSP00000509084.1:p.Lys818=
ENST00000689994.1:c.1944G= ENSP00000509156.1:p.Lys648=
ENST00000690543.1:c.2445G= ENSP00000508831.1:p.Lys815=
ENST00000690917.1:n.2672G=
ENST00000691361.1:n.1364G=
ENST00000692783.1:c.2451G= ENSP00000508733.1:p.Lys817=
ENST00000692991.1:n.2551G=
XM_005265740.1:c.2457G= XP_005265797.1:p.Lys819=
XM_005265741.1:c.2454G= XP_005265798.1:p.Lys818=
XM_005265742.1:c.2445G= XP_005265799.1:p.Lys815=
XM_005265742.3:c.2445G= XP_005265799.1:p.Lys815=
XM_017008178.1:c.2451G= XP_016863667.1:p.Lys817=
XM_017008179.1:c.2442G= XP_016863668.1:p.Lys814=
XM_017008180.1:c.2439G= XP_016863669.1:p.Lys813=