Canonical Allele Identifier: CA2923524
Gene: KIT HGNC NCBI

Linked Data

ClinVar Variation Id: 237246
ClinVar RCV Id: RCV000227249
dbSNP Id: rs772866513
gnomAD v2: 4-55593411-C-T
gnomAD v4: 4-54727245-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727245C>T , CM000666.2:g.54727245C>T GRCh38
NC_000004.11:g.55593411C>T , CM000666.1:g.55593411C>T GRCh37
NC_000004.10:g.55288168C>T NCBI36
NG_007456.1:g.74251C>T , LRG_307:g.74251C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1559C>T ENSP00000390987.3:p.Thr520Ile
ENST00000685269.1:n.1646C>T
ENST00000686011.1:c.1556C>T ENSP00000509704.1:p.Thr519Ile
ENST00000687109.1:c.1571C>T ENSP00000509371.1:p.Thr524Ile
ENST00000687208.1:n.1983C>T
ENST00000687246.1:c.1556C>T ENSP00000509114.1:p.Thr519Ile
ENST00000687265.1:n.1726C>T
ENST00000687295.1:c.1556C>T ENSP00000509450.1:p.Thr519Ile
ENST00000689832.1:c.1571C>T ENSP00000509084.1:p.Thr524Ile
ENST00000689994.1:c.1058C>T ENSP00000509156.1:p.Thr353Ile
ENST00000690543.1:c.1559C>T ENSP00000508831.1:p.Thr520Ile
ENST00000690917.1:n.1786C>T
ENST00000691361.1:n.478C>T
ENST00000692783.1:c.1568C>T ENSP00000508733.1:p.Thr523Ile
ENST00000692991.1:n.1665C>T
ENST00000288135.6:c.1568C>T MANE Select ENSP00000288135.6:p.Thr523Ile
ENST00000288135.5:c.1568C>T ENSP00000288135.5:p.Thr523Ile
ENST00000412167.6:c.1556C>T ENSP00000390987.2:p.Thr519Ile
NM_000222.2:c.1568C>T , LRG_307t1:c.1568C>T NP_000213.1:p.Thr523Ile
NM_001093772.1:c.1556C>T NP_001087241.1:p.Thr519Ile
XM_005265740.1:c.1571C>T XP_005265797.1:p.Thr524Ile
XM_005265741.1:c.1571C>T XP_005265798.1:p.Thr524Ile
XM_005265742.1:c.1559C>T XP_005265799.1:p.Thr520Ile
XM_005265742.3:c.1559C>T XP_005265799.1:p.Thr520Ile
XM_017008178.1:c.1568C>T XP_016863667.1:p.Thr523Ile
XM_017008179.1:c.1559C>T XP_016863668.1:p.Thr520Ile
XM_017008180.1:c.1556C>T XP_016863669.1:p.Thr519Ile
NM_000222.3:c.1568C>T MANE Select NP_000213.1:p.Thr523Ile
NM_001093772.2:c.1556C>T NP_001087241.1:p.Thr519Ile
NM_001385284.1:c.1571C>T NP_001372213.1:p.Thr524Ile
NM_001385285.1:c.1568C>T NP_001372214.1:p.Thr523Ile
NM_001385286.1:c.1556C>T NP_001372215.1:p.Thr519Ile
NM_001385288.1:c.1559C>T NP_001372217.1:p.Thr520Ile
NM_001385290.1:c.1571C>T NP_001372219.1:p.Thr524Ile
NM_001385292.1:c.1559C>T NP_001372221.1:p.Thr520Ile