Canonical Allele Identifier: CA16602401

Gene: KIT

Linked Data

• ClinVar Variation Id: 375919
• ClinVar RCV Id: RCV000426967 ; RCV000426330 ; RCV000433543 ; RCV000443552 ; RCV002402118
• dbSNP Id: rs121913513
• COSMIC: COSM1290
• MyVariant Identifiers: chr4:g.55593661T>C (hg19) ; chr4:g.54727495T>C (hg38)
• CIViC: CA16602401
• PubMed: PMID:7530509 ; PMID:9438854 ; PMID:11276010 ; PMID:15790786 ; PMID:16731599 ; PMID:16908931 ; PMID:17372901 ; PMID:18448188 ; PMID:18980976 ; PMID:19671763 ; PMID:19996579 ; PMID:21642685 ; PMID:21690468 ; PMID:22261812 ; PMID:22357254 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727495T>C , CM000666.2:g.54727495T>C	GRCh38
NC_000004.11:g.55593661T>C , CM000666.1:g.55593661T>C	GRCh37
NC_000004.10:g.55288418T>C	NCBI36
NG_007456.1:g.74501T>C , LRG_307:g.74501T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1718T>C	ENSP00000390987.3:p.Leu573Pro
ENST00000685269.1:n.1805T>C
ENST00000686011.1:c.1715T>C	ENSP00000509704.1:p.Leu572Pro
ENST00000687109.1:c.1730T>C	ENSP00000509371.1:p.Leu577Pro
ENST00000687208.1:n.2142T>C
ENST00000687246.1:c.1715T>C	ENSP00000509114.1:p.Leu572Pro
ENST00000687265.1:n.1885T>C
ENST00000687295.1:c.1715T>C	ENSP00000509450.1:p.Leu572Pro
ENST00000689832.1:c.1730T>C	ENSP00000509084.1:p.Leu577Pro
ENST00000689994.1:c.1217T>C	ENSP00000509156.1:p.Leu406Pro
ENST00000690543.1:c.1718T>C	ENSP00000508831.1:p.Leu573Pro
ENST00000690917.1:n.1945T>C
ENST00000691361.1:n.637T>C
ENST00000692783.1:c.1727T>C	ENSP00000508733.1:p.Leu576Pro
ENST00000692991.1:n.1824T>C
ENST00000288135.6:c.1727T>C MANE Select	ENSP00000288135.6:p.Leu576Pro
ENST00000288135.5:c.1727T>C	ENSP00000288135.5:p.Leu576Pro
ENST00000412167.6:c.1715T>C	ENSP00000390987.2:p.Leu572Pro
NM_000222.2:c.1727T>C , LRG_307t1:c.1727T>C	NP_000213.1:p.Leu576Pro
NM_001093772.1:c.1715T>C	NP_001087241.1:p.Leu572Pro
XM_005265740.1:c.1730T>C	XP_005265797.1:p.Leu577Pro
XM_005265741.1:c.1730T>C	XP_005265798.1:p.Leu577Pro
XM_005265742.1:c.1718T>C	XP_005265799.1:p.Leu573Pro
XM_005265742.3:c.1718T>C	XP_005265799.1:p.Leu573Pro
XM_017008178.1:c.1727T>C	XP_016863667.1:p.Leu576Pro
XM_017008179.1:c.1718T>C	XP_016863668.1:p.Leu573Pro
XM_017008180.1:c.1715T>C	XP_016863669.1:p.Leu572Pro
NM_000222.3:c.1727T>C MANE Select	NP_000213.1:p.Leu576Pro
NM_001093772.2:c.1715T>C	NP_001087241.1:p.Leu572Pro
NM_001385284.1:c.1730T>C	NP_001372213.1:p.Leu577Pro
NM_001385285.1:c.1727T>C	NP_001372214.1:p.Leu576Pro
NM_001385286.1:c.1715T>C	NP_001372215.1:p.Leu572Pro
NM_001385288.1:c.1718T>C	NP_001372217.1:p.Leu573Pro
NM_001385290.1:c.1730T>C	NP_001372219.1:p.Leu577Pro
NM_001385292.1:c.1718T>C	NP_001372221.1:p.Leu573Pro