Canonical Allele Identifier: CA439292045
Gene: KIT HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.55602696A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54736530A>G , CM000666.2:g.54736530A>G GRCh38
NC_000004.11:g.55602696A>G , CM000666.1:g.55602696A>G GRCh37
NC_000004.10:g.55297453A>G NCBI36
NG_007456.1:g.83536A>G , LRG_307:g.83536A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000412167.7:c.2505A>G ENSP00000390987.3:p.Glu835=
ENST00000684818.1:n.1209A>G
ENST00000685269.1:n.2595A>G
ENST00000686011.1:c.2502A>G ENSP00000509704.1:p.Glu834=
ENST00000687109.1:c.2520A>G ENSP00000509371.1:p.Glu840=
ENST00000687208.1:n.2929A>G
ENST00000687246.1:c.2382A>G ENSP00000509114.1:p.Glu794=
ENST00000687265.1:n.2675A>G
ENST00000687295.1:c.2505A>G ENSP00000509450.1:p.Glu835=
ENST00000688060.1:n.314A>G
ENST00000689832.1:c.2517A>G ENSP00000509084.1:p.Glu839=
ENST00000689994.1:c.2007A>G ENSP00000509156.1:p.Glu669=
ENST00000690543.1:c.2508A>G ENSP00000508831.1:p.Glu836=
ENST00000690917.1:n.2735A>G
ENST00000691361.1:n.1427A>G
ENST00000692301.1:n.1209A>G
ENST00000692783.1:c.2514A>G ENSP00000508733.1:p.Glu838=
ENST00000692991.1:n.2614A>G
ENST00000288135.6:c.2517A>G MANE Select ENSP00000288135.6:p.Glu839=
ENST00000288135.5:c.2517A>G ENSP00000288135.5:p.Glu839=
ENST00000412167.6:c.2505A>G ENSP00000390987.2:p.Glu835=
NM_000222.2:c.2517A>G , LRG_307t1:c.2517A>G NP_000213.1:p.Glu839=
NM_001093772.1:c.2505A>G NP_001087241.1:p.Glu835=
XM_005265740.1:c.2520A>G XP_005265797.1:p.Glu840=
XM_005265741.1:c.2517A>G XP_005265798.1:p.Glu839=
XM_005265742.1:c.2508A>G XP_005265799.1:p.Glu836=
XM_005265742.3:c.2508A>G XP_005265799.1:p.Glu836=
XM_017008178.1:c.2514A>G XP_016863667.1:p.Glu838=
XM_017008179.1:c.2505A>G XP_016863668.1:p.Glu835=
XM_017008180.1:c.2502A>G XP_016863669.1:p.Glu834=
NM_000222.3:c.2517A>G MANE Select NP_000213.1:p.Glu839=
NM_001093772.2:c.2505A>G NP_001087241.1:p.Glu835=
NM_001385284.1:c.2520A>G NP_001372213.1:p.Glu840=
NM_001385285.1:c.2514A>G NP_001372214.1:p.Glu838=
NM_001385286.1:c.2502A>G NP_001372215.1:p.Glu834=
NM_001385288.1:c.2508A>G NP_001372217.1:p.Glu836=
NM_001385290.1:c.2517A>G NP_001372219.1:p.Glu839=
NM_001385292.1:c.2505A>G NP_001372221.1:p.Glu835=