Canonical Allele Identifier: CA16602410

Gene: KIT

Linked Data

• ClinVar Variation Id: 375930
• ClinVar RCV Id: RCV000427071 ; RCV000437313 ; RCV002286573
• dbSNP Id: rs993022333
• COSMIC: COSM3604523
• MyVariant Identifiers: chr4:g.55599339A>T (hg19) ; chr4:g.54733173A>T (hg38)
• PubMed: PMID:17259998 ; PMID:21159146 ; PMID:21689725 ; PMID:23582185

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733173A>T , CM000666.2:g.54733173A>T	GRCh38
NC_000004.11:g.55599339A>T , CM000666.1:g.55599339A>T	GRCh37
NC_000004.10:g.55294096A>T	NCBI36
NG_007456.1:g.80179A>T , LRG_307:g.80179A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000412167.7:c.2453A>T	ENSP00000390987.3:p.Asn818Ile
ENST00000685269.1:n.2543A>T
ENST00000686011.1:c.2450A>T	ENSP00000509704.1:p.Asn817Ile
ENST00000687109.1:c.2468A>T	ENSP00000509371.1:p.Asn823Ile
ENST00000687208.1:n.2877A>T
ENST00000687246.1:c.2349+1175A>T	ENSP00000509114.1:n.2349+1175A>T
ENST00000687265.1:n.2623A>T
ENST00000687295.1:c.2453A>T	ENSP00000509450.1:p.Asn818Ile
ENST00000688060.1:n.262A>T
ENST00000688704.1:n.1477A>T
ENST00000689832.1:c.2465A>T	ENSP00000509084.1:p.Asn822Ile
ENST00000689994.1:c.1955A>T	ENSP00000509156.1:p.Asn652Ile
ENST00000690543.1:c.2456A>T	ENSP00000508831.1:p.Asn819Ile
ENST00000690917.1:n.2683A>T
ENST00000691361.1:n.1375A>T
ENST00000692783.1:c.2462A>T	ENSP00000508733.1:p.Asn821Ile
ENST00000692991.1:n.2562A>T
ENST00000288135.6:c.2465A>T MANE Select	ENSP00000288135.6:p.Asn822Ile
ENST00000288135.5:c.2465A>T	ENSP00000288135.5:p.Asn822Ile
ENST00000412167.6:c.2453A>T	ENSP00000390987.2:p.Asn818Ile
ENST00000512959.1:n.518A>T
NM_000222.2:c.2465A>T , LRG_307t1:c.2465A>T	NP_000213.1:p.Asn822Ile
NM_001093772.1:c.2453A>T	NP_001087241.1:p.Asn818Ile
XM_005265740.1:c.2468A>T	XP_005265797.1:p.Asn823Ile
XM_005265741.1:c.2465A>T	XP_005265798.1:p.Asn822Ile
XM_005265742.1:c.2456A>T	XP_005265799.1:p.Asn819Ile
XM_005265742.3:c.2456A>T	XP_005265799.1:p.Asn819Ile
XM_017008178.1:c.2462A>T	XP_016863667.1:p.Asn821Ile
XM_017008179.1:c.2453A>T	XP_016863668.1:p.Asn818Ile
XM_017008180.1:c.2450A>T	XP_016863669.1:p.Asn817Ile
NM_000222.3:c.2465A>T MANE Select	NP_000213.1:p.Asn822Ile
NM_001093772.2:c.2453A>T	NP_001087241.1:p.Asn818Ile
NM_001385284.1:c.2468A>T	NP_001372213.1:p.Asn823Ile
NM_001385285.1:c.2462A>T	NP_001372214.1:p.Asn821Ile
NM_001385286.1:c.2450A>T	NP_001372215.1:p.Asn817Ile
NM_001385288.1:c.2456A>T	NP_001372217.1:p.Asn819Ile
NM_001385290.1:c.2465A>T	NP_001372219.1:p.Asn822Ile
NM_001385292.1:c.2453A>T	NP_001372221.1:p.Asn818Ile