Canonical Allele Identifier: CA356907426
Gene: KIT HGNC NCBI

Linked Data

ClinVar Variation Id: 1045068
dbSNP Id: rs1722299442
COSMIC: COSM33965

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727420C>T , CM000666.2:g.54727420C>T GRCh38
NC_000004.11:g.55593586C>T , CM000666.1:g.55593586C>T GRCh37
NC_000004.10:g.55288343C>T NCBI36
NG_007456.1:g.74426C>T , LRG_307:g.74426C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1643C>T ENSP00000390987.3:p.Pro548Leu
ENST00000685269.1:n.1730C>T
ENST00000686011.1:c.1640C>T ENSP00000509704.1:p.Pro547Leu
ENST00000687109.1:c.1655C>T ENSP00000509371.1:p.Pro552Leu
ENST00000687208.1:n.2067C>T
ENST00000687246.1:c.1640C>T ENSP00000509114.1:p.Pro547Leu
ENST00000687265.1:n.1810C>T
ENST00000687295.1:c.1640C>T ENSP00000509450.1:p.Pro547Leu
ENST00000689832.1:c.1655C>T ENSP00000509084.1:p.Pro552Leu
ENST00000689994.1:c.1142C>T ENSP00000509156.1:p.Pro381Leu
ENST00000690543.1:c.1643C>T ENSP00000508831.1:p.Pro548Leu
ENST00000690917.1:n.1870C>T
ENST00000691361.1:n.562C>T
ENST00000692783.1:c.1652C>T ENSP00000508733.1:p.Pro551Leu
ENST00000692991.1:n.1749C>T
ENST00000288135.6:c.1652C>T MANE Select ENSP00000288135.6:p.Pro551Leu
ENST00000288135.5:c.1652C>T ENSP00000288135.5:p.Pro551Leu
ENST00000412167.6:c.1640C>T ENSP00000390987.2:p.Pro547Leu
NM_000222.2:c.1652C>T , LRG_307t1:c.1652C>T NP_000213.1:p.Pro551Leu
NM_001093772.1:c.1640C>T NP_001087241.1:p.Pro547Leu
XM_005265740.1:c.1655C>T XP_005265797.1:p.Pro552Leu
XM_005265741.1:c.1655C>T XP_005265798.1:p.Pro552Leu
XM_005265742.1:c.1643C>T XP_005265799.1:p.Pro548Leu
XM_005265742.3:c.1643C>T XP_005265799.1:p.Pro548Leu
XM_017008178.1:c.1652C>T XP_016863667.1:p.Pro551Leu
XM_017008179.1:c.1643C>T XP_016863668.1:p.Pro548Leu
XM_017008180.1:c.1640C>T XP_016863669.1:p.Pro547Leu
NM_000222.3:c.1652C>T MANE Select NP_000213.1:p.Pro551Leu
NM_001093772.2:c.1640C>T NP_001087241.1:p.Pro547Leu
NM_001385284.1:c.1655C>T NP_001372213.1:p.Pro552Leu
NM_001385285.1:c.1652C>T NP_001372214.1:p.Pro551Leu
NM_001385286.1:c.1640C>T NP_001372215.1:p.Pro547Leu
NM_001385288.1:c.1643C>T NP_001372217.1:p.Pro548Leu
NM_001385290.1:c.1655C>T NP_001372219.1:p.Pro552Leu
NM_001385292.1:c.1643C>T NP_001372221.1:p.Pro548Leu