Canonical Allele Identifier: CA356911971

Gene: KIT

Linked Data

• ClinVar Variation Id: 2734655
• ClinVar RCV Id: RCV003527200
• dbSNP Id: rs2109801889
• COSMIC: COSM19109
• MyVariant Identifiers: chr4:g.55599338A>T (hg19) ; chr4:g.54733172A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733172A>T , CM000666.2:g.54733172A>T	GRCh38
NC_000004.11:g.55599338A>T , CM000666.1:g.55599338A>T	GRCh37
NC_000004.10:g.55294095A>T	NCBI36
NG_007456.1:g.80178A>T , LRG_307:g.80178A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2452A>T	ENSP00000390987.3:p.Asn818Tyr
ENST00000685269.1:n.2542A>T
ENST00000686011.1:c.2449A>T	ENSP00000509704.1:p.Asn817Tyr
ENST00000687109.1:c.2467A>T	ENSP00000509371.1:p.Asn823Tyr
ENST00000687208.1:n.2876A>T
ENST00000687246.1:c.2349+1174A>T	ENSP00000509114.1:n.2349+1174A>T
ENST00000687265.1:n.2622A>T
ENST00000687295.1:c.2452A>T	ENSP00000509450.1:p.Asn818Tyr
ENST00000688060.1:n.261A>T
ENST00000688704.1:n.1476A>T
ENST00000689832.1:c.2464A>T	ENSP00000509084.1:p.Asn822Tyr
ENST00000689994.1:c.1954A>T	ENSP00000509156.1:p.Asn652Tyr
ENST00000690543.1:c.2455A>T	ENSP00000508831.1:p.Asn819Tyr
ENST00000690917.1:n.2682A>T
ENST00000691361.1:n.1374A>T
ENST00000692783.1:c.2461A>T	ENSP00000508733.1:p.Asn821Tyr
ENST00000692991.1:n.2561A>T
ENST00000288135.6:c.2464A>T MANE Select	ENSP00000288135.6:p.Asn822Tyr
ENST00000288135.5:c.2464A>T	ENSP00000288135.5:p.Asn822Tyr
ENST00000412167.6:c.2452A>T	ENSP00000390987.2:p.Asn818Tyr
ENST00000512959.1:n.517A>T
NM_000222.2:c.2464A>T , LRG_307t1:c.2464A>T	NP_000213.1:p.Asn822Tyr
NM_001093772.1:c.2452A>T	NP_001087241.1:p.Asn818Tyr
XM_005265740.1:c.2467A>T	XP_005265797.1:p.Asn823Tyr
XM_005265741.1:c.2464A>T	XP_005265798.1:p.Asn822Tyr
XM_005265742.1:c.2455A>T	XP_005265799.1:p.Asn819Tyr
XM_005265742.3:c.2455A>T	XP_005265799.1:p.Asn819Tyr
XM_017008178.1:c.2461A>T	XP_016863667.1:p.Asn821Tyr
XM_017008179.1:c.2452A>T	XP_016863668.1:p.Asn818Tyr
XM_017008180.1:c.2449A>T	XP_016863669.1:p.Asn817Tyr
NM_000222.3:c.2464A>T MANE Select	NP_000213.1:p.Asn822Tyr
NM_001093772.2:c.2452A>T	NP_001087241.1:p.Asn818Tyr
NM_001385284.1:c.2467A>T	NP_001372213.1:p.Asn823Tyr
NM_001385285.1:c.2461A>T	NP_001372214.1:p.Asn821Tyr
NM_001385286.1:c.2449A>T	NP_001372215.1:p.Asn817Tyr
NM_001385288.1:c.2455A>T	NP_001372217.1:p.Asn819Tyr
NM_001385290.1:c.2464A>T	NP_001372219.1:p.Asn822Tyr
NM_001385292.1:c.2452A>T	NP_001372221.1:p.Asn818Tyr