Canonical Allele Identifier: CA1062688581

Gene: KIT

Linked Data

• dbSNP Id: rs1722295113
• gnomAD v3: 4-54727373-A-G
• gnomAD v4: 4-54727373-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727373A>G , CM000666.2:g.54727373A>G	GRCh38
NC_000004.11:g.55593539A>G , CM000666.1:g.55593539A>G	GRCh37
NC_000004.10:g.55288296A>G	NCBI36
NG_007456.1:g.74379A>G , LRG_307:g.74379A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1639-43A>G	ENSP00000390987.3:n.1639-43A>G
ENST00000685269.1:n.1726-43A>G
ENST00000686011.1:c.1636-43A>G	ENSP00000509704.1:n.1636-43A>G
ENST00000687109.1:c.1651-43A>G	ENSP00000509371.1:n.1651-43A>G
ENST00000687208.1:n.2063-43A>G
ENST00000687246.1:c.1636-43A>G	ENSP00000509114.1:n.1636-43A>G
ENST00000687265.1:n.1806-43A>G
ENST00000687295.1:c.1636-43A>G	ENSP00000509450.1:n.1636-43A>G
ENST00000689832.1:c.1651-43A>G	ENSP00000509084.1:n.1651-43A>G
ENST00000689994.1:c.1138-43A>G	ENSP00000509156.1:n.1138-43A>G
ENST00000690543.1:c.1639-43A>G	ENSP00000508831.1:n.1639-43A>G
ENST00000690917.1:n.1866-43A>G
ENST00000691361.1:n.558-43A>G
ENST00000692783.1:c.1648-43A>G	ENSP00000508733.1:n.1648-43A>G
ENST00000692991.1:n.1745-43A>G
ENST00000288135.6:c.1648-43A>G MANE Select	ENSP00000288135.6:n.1648-43A>G
ENST00000288135.5:c.1648-43A>G	ENSP00000288135.5:n.1648-43A>G
ENST00000412167.6:c.1636-43A>G	ENSP00000390987.2:n.1636-43A>G
NM_000222.2:c.1648-43A>G , LRG_307t1:c.1648-43A>G	NP_000213.1:n.1648-43A>G
NM_001093772.1:c.1636-43A>G	NP_001087241.1:n.1636-43A>G
XM_005265740.1:c.1651-43A>G	XP_005265797.1:n.1651-43A>G
XM_005265741.1:c.1651-43A>G	XP_005265798.1:n.1651-43A>G
XM_005265742.1:c.1639-43A>G	XP_005265799.1:n.1639-43A>G
XM_005265742.3:c.1639-43A>G	XP_005265799.1:n.1639-43A>G
XM_017008178.1:c.1648-43A>G	XP_016863667.1:n.1648-43A>G
XM_017008179.1:c.1639-43A>G	XP_016863668.1:n.1639-43A>G
XM_017008180.1:c.1636-43A>G	XP_016863669.1:n.1636-43A>G
NM_000222.3:c.1648-43A>G MANE Select	NP_000213.1:n.1648-43A>G
NM_001093772.2:c.1636-43A>G	NP_001087241.1:n.1636-43A>G
NM_001385284.1:c.1651-43A>G	NP_001372213.1:n.1651-43A>G
NM_001385285.1:c.1648-43A>G	NP_001372214.1:n.1648-43A>G
NM_001385286.1:c.1636-43A>G	NP_001372215.1:n.1636-43A>G
NM_001385288.1:c.1639-43A>G	NP_001372217.1:n.1639-43A>G
NM_001385290.1:c.1651-43A>G	NP_001372219.1:n.1651-43A>G
NM_001385292.1:c.1639-43A>G	NP_001372221.1:n.1639-43A>G