Canonical Allele Identifier: CA123543

Gene: KIT

Linked Data

• ClinVar Variation Id: 13864
• ClinVar RCV Id: RCV000014878
• dbSNP Id: rs28933371
• MyVariant Identifiers: chr4:g.55593685T>G (hg19) ; chr4:g.54727519T>G (hg38)
• PubMed: PMID:11074500

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727519T>G , CM000666.2:g.54727519T>G	GRCh38
NC_000004.11:g.55593685T>G , CM000666.1:g.55593685T>G	GRCh37
NC_000004.10:g.55288442T>G	NCBI36
NG_007456.1:g.74525T>G , LRG_307:g.74525T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1742T>G	ENSP00000390987.3:p.Phe581Cys
ENST00000685269.1:n.1829T>G
ENST00000686011.1:c.1739T>G	ENSP00000509704.1:p.Phe580Cys
ENST00000687109.1:c.1754T>G	ENSP00000509371.1:p.Phe585Cys
ENST00000687208.1:n.2166T>G
ENST00000687246.1:c.1739T>G	ENSP00000509114.1:p.Phe580Cys
ENST00000687265.1:n.1909T>G
ENST00000687295.1:c.1739T>G	ENSP00000509450.1:p.Phe580Cys
ENST00000689832.1:c.1754T>G	ENSP00000509084.1:p.Phe585Cys
ENST00000689994.1:c.1241T>G	ENSP00000509156.1:p.Phe414Cys
ENST00000690543.1:c.1742T>G	ENSP00000508831.1:p.Phe581Cys
ENST00000690917.1:n.1969T>G
ENST00000691361.1:n.661T>G
ENST00000692783.1:c.1751T>G	ENSP00000508733.1:p.Phe584Cys
ENST00000692991.1:n.1848T>G
ENST00000288135.6:c.1751T>G MANE Select	ENSP00000288135.6:p.Phe584Cys
ENST00000288135.5:c.1751T>G	ENSP00000288135.5:p.Phe584Cys
ENST00000412167.6:c.1739T>G	ENSP00000390987.2:p.Phe580Cys
NM_000222.2:c.1751T>G , LRG_307t1:c.1751T>G	NP_000213.1:p.Phe584Cys
NM_001093772.1:c.1739T>G	NP_001087241.1:p.Phe580Cys
XM_005265740.1:c.1754T>G	XP_005265797.1:p.Phe585Cys
XM_005265741.1:c.1754T>G	XP_005265798.1:p.Phe585Cys
XM_005265742.1:c.1742T>G	XP_005265799.1:p.Phe581Cys
XM_005265742.3:c.1742T>G	XP_005265799.1:p.Phe581Cys
XM_017008178.1:c.1751T>G	XP_016863667.1:p.Phe584Cys
XM_017008179.1:c.1742T>G	XP_016863668.1:p.Phe581Cys
XM_017008180.1:c.1739T>G	XP_016863669.1:p.Phe580Cys
NM_000222.3:c.1751T>G MANE Select	NP_000213.1:p.Phe584Cys
NM_001093772.2:c.1739T>G	NP_001087241.1:p.Phe580Cys
NM_001385284.1:c.1754T>G	NP_001372213.1:p.Phe585Cys
NM_001385285.1:c.1751T>G	NP_001372214.1:p.Phe584Cys
NM_001385286.1:c.1739T>G	NP_001372215.1:p.Phe580Cys
NM_001385288.1:c.1742T>G	NP_001372217.1:p.Phe581Cys
NM_001385290.1:c.1754T>G	NP_001372219.1:p.Phe585Cys
NM_001385292.1:c.1742T>G	NP_001372221.1:p.Phe581Cys