Canonical Allele Identifier: CA356907565

Gene: KIT

Linked Data

• ClinVar Variation Id: 528560
• ClinVar RCV Id: RCV000633781
• dbSNP Id: rs1307097576
• gnomAD v2: 4-55593655-C-T
• gnomAD v3: 4-54727489-C-T
• gnomAD v4: 4-54727489-C-T
• COSMIC: COSM1287
• MyVariant Identifiers: chr4:g.55593655C>T (hg19) ; chr4:g.54727489C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727489C>T , CM000666.2:g.54727489C>T	GRCh38
NC_000004.11:g.55593655C>T , CM000666.1:g.55593655C>T	GRCh37
NC_000004.10:g.55288412C>T	NCBI36
NG_007456.1:g.74495C>T , LRG_307:g.74495C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1712C>T	ENSP00000390987.3:p.Thr571Ile
ENST00000685269.1:n.1799C>T
ENST00000686011.1:c.1709C>T	ENSP00000509704.1:p.Thr570Ile
ENST00000687109.1:c.1724C>T	ENSP00000509371.1:p.Thr575Ile
ENST00000687208.1:n.2136C>T
ENST00000687246.1:c.1709C>T	ENSP00000509114.1:p.Thr570Ile
ENST00000687265.1:n.1879C>T
ENST00000687295.1:c.1709C>T	ENSP00000509450.1:p.Thr570Ile
ENST00000689832.1:c.1724C>T	ENSP00000509084.1:p.Thr575Ile
ENST00000689994.1:c.1211C>T	ENSP00000509156.1:p.Thr404Ile
ENST00000690543.1:c.1712C>T	ENSP00000508831.1:p.Thr571Ile
ENST00000690917.1:n.1939C>T
ENST00000691361.1:n.631C>T
ENST00000692783.1:c.1721C>T	ENSP00000508733.1:p.Thr574Ile
ENST00000692991.1:n.1818C>T
ENST00000288135.6:c.1721C>T MANE Select	ENSP00000288135.6:p.Thr574Ile
ENST00000288135.5:c.1721C>T	ENSP00000288135.5:p.Thr574Ile
ENST00000412167.6:c.1709C>T	ENSP00000390987.2:p.Thr570Ile
NM_000222.2:c.1721C>T , LRG_307t1:c.1721C>T	NP_000213.1:p.Thr574Ile
NM_001093772.1:c.1709C>T	NP_001087241.1:p.Thr570Ile
XM_005265740.1:c.1724C>T	XP_005265797.1:p.Thr575Ile
XM_005265741.1:c.1724C>T	XP_005265798.1:p.Thr575Ile
XM_005265742.1:c.1712C>T	XP_005265799.1:p.Thr571Ile
XM_005265742.3:c.1712C>T	XP_005265799.1:p.Thr571Ile
XM_017008178.1:c.1721C>T	XP_016863667.1:p.Thr574Ile
XM_017008179.1:c.1712C>T	XP_016863668.1:p.Thr571Ile
XM_017008180.1:c.1709C>T	XP_016863669.1:p.Thr570Ile
NM_000222.3:c.1721C>T MANE Select	NP_000213.1:p.Thr574Ile
NM_001093772.2:c.1709C>T	NP_001087241.1:p.Thr570Ile
NM_001385284.1:c.1724C>T	NP_001372213.1:p.Thr575Ile
NM_001385285.1:c.1721C>T	NP_001372214.1:p.Thr574Ile
NM_001385286.1:c.1709C>T	NP_001372215.1:p.Thr570Ile
NM_001385288.1:c.1712C>T	NP_001372217.1:p.Thr571Ile
NM_001385290.1:c.1724C>T	NP_001372219.1:p.Thr575Ile
NM_001385292.1:c.1712C>T	NP_001372221.1:p.Thr571Ile