Canonical Allele Identifier: CA123509

Gene: KIT

Linked Data

• ClinVar Variation Id: 13849
• ClinVar RCV Id: RCV000014861 ; RCV003525858
• dbSNP Id: rs121913680
• MyVariant Identifiers: chr4:g.55593681G>A (hg19) ; chr4:g.54727515G>A (hg38)
• PubMed: PMID:1376329

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727515G>A , CM000666.2:g.54727515G>A	GRCh38
NC_000004.11:g.55593681G>A , CM000666.1:g.55593681G>A	GRCh37
NC_000004.10:g.55288438G>A	NCBI36
NG_007456.1:g.74521G>A , LRG_307:g.74521G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1738G>A	ENSP00000390987.3:p.Glu580Lys
ENST00000685269.1:n.1825G>A
ENST00000686011.1:c.1735G>A	ENSP00000509704.1:p.Glu579Lys
ENST00000687109.1:c.1750G>A	ENSP00000509371.1:p.Glu584Lys
ENST00000687208.1:n.2162G>A
ENST00000687246.1:c.1735G>A	ENSP00000509114.1:p.Glu579Lys
ENST00000687265.1:n.1905G>A
ENST00000687295.1:c.1735G>A	ENSP00000509450.1:p.Glu579Lys
ENST00000689832.1:c.1750G>A	ENSP00000509084.1:p.Glu584Lys
ENST00000689994.1:c.1237G>A	ENSP00000509156.1:p.Glu413Lys
ENST00000690543.1:c.1738G>A	ENSP00000508831.1:p.Glu580Lys
ENST00000690917.1:n.1965G>A
ENST00000691361.1:n.657G>A
ENST00000692783.1:c.1747G>A	ENSP00000508733.1:p.Glu583Lys
ENST00000692991.1:n.1844G>A
ENST00000288135.6:c.1747G>A MANE Select	ENSP00000288135.6:p.Glu583Lys
ENST00000288135.5:c.1747G>A	ENSP00000288135.5:p.Glu583Lys
ENST00000412167.6:c.1735G>A	ENSP00000390987.2:p.Glu579Lys
NM_000222.2:c.1747G>A , LRG_307t1:c.1747G>A	NP_000213.1:p.Glu583Lys
NM_001093772.1:c.1735G>A	NP_001087241.1:p.Glu579Lys
XM_005265740.1:c.1750G>A	XP_005265797.1:p.Glu584Lys
XM_005265741.1:c.1750G>A	XP_005265798.1:p.Glu584Lys
XM_005265742.1:c.1738G>A	XP_005265799.1:p.Glu580Lys
XM_005265742.3:c.1738G>A	XP_005265799.1:p.Glu580Lys
XM_017008178.1:c.1747G>A	XP_016863667.1:p.Glu583Lys
XM_017008179.1:c.1738G>A	XP_016863668.1:p.Glu580Lys
XM_017008180.1:c.1735G>A	XP_016863669.1:p.Glu579Lys
NM_000222.3:c.1747G>A MANE Select	NP_000213.1:p.Glu583Lys
NM_001093772.2:c.1735G>A	NP_001087241.1:p.Glu579Lys
NM_001385284.1:c.1750G>A	NP_001372213.1:p.Glu584Lys
NM_001385285.1:c.1747G>A	NP_001372214.1:p.Glu583Lys
NM_001385286.1:c.1735G>A	NP_001372215.1:p.Glu579Lys
NM_001385288.1:c.1738G>A	NP_001372217.1:p.Glu580Lys
NM_001385290.1:c.1750G>A	NP_001372219.1:p.Glu584Lys
NM_001385292.1:c.1738G>A	NP_001372221.1:p.Glu580Lys