Canonical Allele Identifier: CA2923773
Gene: KIT HGNC NCBI

Linked Data

dbSNP Id: rs751206924
gnomAD v2: 4-55599289-C-G
gnomAD v4: 4-54733123-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54733123C>G , CM000666.2:g.54733123C>G GRCh38
NC_000004.11:g.55599289C>G , CM000666.1:g.55599289C>G GRCh37
NC_000004.10:g.55294046C>G NCBI36
NG_007456.1:g.80129C>G , LRG_307:g.80129C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.2403C>G ENSP00000390987.3:p.Ile801Met
ENST00000685269.1:n.2493C>G
ENST00000686011.1:c.2400C>G ENSP00000509704.1:p.Ile800Met
ENST00000687109.1:c.2418C>G ENSP00000509371.1:p.Ile806Met
ENST00000687208.1:n.2827C>G
ENST00000687246.1:c.2349+1125C>G ENSP00000509114.1:n.2349+1125C>G
ENST00000687265.1:n.2573C>G
ENST00000687295.1:c.2403C>G ENSP00000509450.1:p.Ile801Met
ENST00000688060.1:n.212C>G
ENST00000688704.1:n.1427C>G
ENST00000689832.1:c.2415C>G ENSP00000509084.1:p.Ile805Met
ENST00000689994.1:c.1905C>G ENSP00000509156.1:p.Ile635Met
ENST00000690543.1:c.2406C>G ENSP00000508831.1:p.Ile802Met
ENST00000690917.1:n.2633C>G
ENST00000691361.1:n.1325C>G
ENST00000692783.1:c.2412C>G ENSP00000508733.1:p.Ile804Met
ENST00000692991.1:n.2512C>G
ENST00000288135.6:c.2415C>G MANE Select ENSP00000288135.6:p.Ile805Met
ENST00000288135.5:c.2415C>G ENSP00000288135.5:p.Ile805Met
ENST00000412167.6:c.2403C>G ENSP00000390987.2:p.Ile801Met
ENST00000512959.1:n.468C>G
NM_000222.2:c.2415C>G , LRG_307t1:c.2415C>G NP_000213.1:p.Ile805Met
NM_001093772.1:c.2403C>G NP_001087241.1:p.Ile801Met
XM_005265740.1:c.2418C>G XP_005265797.1:p.Ile806Met
XM_005265741.1:c.2415C>G XP_005265798.1:p.Ile805Met
XM_005265742.1:c.2406C>G XP_005265799.1:p.Ile802Met
XM_005265742.3:c.2406C>G XP_005265799.1:p.Ile802Met
XM_017008178.1:c.2412C>G XP_016863667.1:p.Ile804Met
XM_017008179.1:c.2403C>G XP_016863668.1:p.Ile801Met
XM_017008180.1:c.2400C>G XP_016863669.1:p.Ile800Met
NM_000222.3:c.2415C>G MANE Select NP_000213.1:p.Ile805Met
NM_001093772.2:c.2403C>G NP_001087241.1:p.Ile801Met
NM_001385284.1:c.2418C>G NP_001372213.1:p.Ile806Met
NM_001385285.1:c.2412C>G NP_001372214.1:p.Ile804Met
NM_001385286.1:c.2400C>G NP_001372215.1:p.Ile800Met
NM_001385288.1:c.2406C>G NP_001372217.1:p.Ile802Met
NM_001385290.1:c.2415C>G NP_001372219.1:p.Ile805Met
NM_001385292.1:c.2403C>G NP_001372221.1:p.Ile801Met