Canonical Allele Identifier: CA16602405

Gene: KIT

Linked Data

• ClinVar Variation Id: 375924
• ClinVar RCV Id: RCV000428319 ; RCV000549644
• dbSNP Id: rs1057519708
• COSMIC: COSM235682
• MyVariant Identifiers: chr4:g.55594262T>G (hg19) ; chr4:g.54728096T>G (hg38)
• PubMed: PMID:21569090

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54728096T>G , CM000666.2:g.54728096T>G	GRCh38
NC_000004.11:g.55594262T>G , CM000666.1:g.55594262T>G	GRCh37
NC_000004.10:g.55289019T>G	NCBI36
NG_007456.1:g.75102T>G , LRG_307:g.75102T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000412167.7:c.1956T>G	ENSP00000390987.3:p.Asn652Lys
ENST00000685269.1:n.2043T>G
ENST00000686011.1:c.1953T>G	ENSP00000509704.1:p.Asn651Lys
ENST00000687109.1:c.1968T>G	ENSP00000509371.1:p.Asn656Lys
ENST00000687208.1:n.2380T>G
ENST00000687246.1:c.1953T>G	ENSP00000509114.1:p.Asn651Lys
ENST00000687265.1:n.2123T>G
ENST00000687295.1:c.1953T>G	ENSP00000509450.1:p.Asn651Lys
ENST00000689832.1:c.1968T>G	ENSP00000509084.1:p.Asn656Lys
ENST00000689994.1:c.1455T>G	ENSP00000509156.1:p.Asn485Lys
ENST00000690543.1:c.1956T>G	ENSP00000508831.1:p.Asn652Lys
ENST00000690917.1:n.2183T>G
ENST00000691361.1:n.875T>G
ENST00000692783.1:c.1965T>G	ENSP00000508733.1:p.Asn655Lys
ENST00000692991.1:n.2062T>G
ENST00000288135.6:c.1965T>G MANE Select	ENSP00000288135.6:p.Asn655Lys
ENST00000288135.5:c.1965T>G	ENSP00000288135.5:p.Asn655Lys
ENST00000412167.6:c.1953T>G	ENSP00000390987.2:p.Asn651Lys
NM_000222.2:c.1965T>G , LRG_307t1:c.1965T>G	NP_000213.1:p.Asn655Lys
NM_001093772.1:c.1953T>G	NP_001087241.1:p.Asn651Lys
XM_005265740.1:c.1968T>G	XP_005265797.1:p.Asn656Lys
XM_005265741.1:c.1968T>G	XP_005265798.1:p.Asn656Lys
XM_005265742.1:c.1956T>G	XP_005265799.1:p.Asn652Lys
XM_005265742.3:c.1956T>G	XP_005265799.1:p.Asn652Lys
XM_017008178.1:c.1965T>G	XP_016863667.1:p.Asn655Lys
XM_017008179.1:c.1956T>G	XP_016863668.1:p.Asn652Lys
XM_017008180.1:c.1953T>G	XP_016863669.1:p.Asn651Lys
NM_000222.3:c.1965T>G MANE Select	NP_000213.1:p.Asn655Lys
NM_001093772.2:c.1953T>G	NP_001087241.1:p.Asn651Lys
NM_001385284.1:c.1968T>G	NP_001372213.1:p.Asn656Lys
NM_001385285.1:c.1965T>G	NP_001372214.1:p.Asn655Lys
NM_001385286.1:c.1953T>G	NP_001372215.1:p.Asn651Lys
NM_001385288.1:c.1956T>G	NP_001372217.1:p.Asn652Lys
NM_001385290.1:c.1968T>G	NP_001372219.1:p.Asn656Lys
NM_001385292.1:c.1956T>G	NP_001372221.1:p.Asn652Lys