Canonical Allele Identifier: CA16602390
Gene: KIT HGNC NCBI

Linked Data

ClinVar Variation Id: 375907
dbSNP Id: rs1057519704
COSMIC: COSM133763

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727425T>A , CM000666.2:g.54727425T>A GRCh38
NC_000004.11:g.55593591T>A , CM000666.1:g.55593591T>A GRCh37
NC_000004.10:g.55288348T>A NCBI36
NG_007456.1:g.74431T>A , LRG_307:g.74431T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000412167.7:c.1648T>A ENSP00000390987.3:p.Tyr550Asn
ENST00000685269.1:n.1735T>A
ENST00000686011.1:c.1645T>A ENSP00000509704.1:p.Tyr549Asn
ENST00000687109.1:c.1660T>A ENSP00000509371.1:p.Tyr554Asn
ENST00000687208.1:n.2072T>A
ENST00000687246.1:c.1645T>A ENSP00000509114.1:p.Tyr549Asn
ENST00000687265.1:n.1815T>A
ENST00000687295.1:c.1645T>A ENSP00000509450.1:p.Tyr549Asn
ENST00000689832.1:c.1660T>A ENSP00000509084.1:p.Tyr554Asn
ENST00000689994.1:c.1147T>A ENSP00000509156.1:p.Tyr383Asn
ENST00000690543.1:c.1648T>A ENSP00000508831.1:p.Tyr550Asn
ENST00000690917.1:n.1875T>A
ENST00000691361.1:n.567T>A
ENST00000692783.1:c.1657T>A ENSP00000508733.1:p.Tyr553Asn
ENST00000692991.1:n.1754T>A
ENST00000288135.6:c.1657T>A MANE Select ENSP00000288135.6:p.Tyr553Asn
ENST00000288135.5:c.1657T>A ENSP00000288135.5:p.Tyr553Asn
ENST00000412167.6:c.1645T>A ENSP00000390987.2:p.Tyr549Asn
NM_000222.2:c.1657T>A , LRG_307t1:c.1657T>A NP_000213.1:p.Tyr553Asn
NM_001093772.1:c.1645T>A NP_001087241.1:p.Tyr549Asn
XM_005265740.1:c.1660T>A XP_005265797.1:p.Tyr554Asn
XM_005265741.1:c.1660T>A XP_005265798.1:p.Tyr554Asn
XM_005265742.1:c.1648T>A XP_005265799.1:p.Tyr550Asn
XM_005265742.3:c.1648T>A XP_005265799.1:p.Tyr550Asn
XM_017008178.1:c.1657T>A XP_016863667.1:p.Tyr553Asn
XM_017008179.1:c.1648T>A XP_016863668.1:p.Tyr550Asn
XM_017008180.1:c.1645T>A XP_016863669.1:p.Tyr549Asn
NM_000222.3:c.1657T>A MANE Select NP_000213.1:p.Tyr553Asn
NM_001093772.2:c.1645T>A NP_001087241.1:p.Tyr549Asn
NM_001385284.1:c.1660T>A NP_001372213.1:p.Tyr554Asn
NM_001385285.1:c.1657T>A NP_001372214.1:p.Tyr553Asn
NM_001385286.1:c.1645T>A NP_001372215.1:p.Tyr549Asn
NM_001385288.1:c.1648T>A NP_001372217.1:p.Tyr550Asn
NM_001385290.1:c.1660T>A NP_001372219.1:p.Tyr554Asn
NM_001385292.1:c.1648T>A NP_001372221.1:p.Tyr550Asn