Canonical Allele Identifier: CA356911977

Gene: KIT

Linked Data

• dbSNP Id: rs993022333
• COSMIC: COSM33975
• MyVariant Identifiers: chr4:g.55599339A>G (hg19) ; chr4:g.54733173A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000412167.7:c.2453A>G	ENSP00000390987.3:p.Asn818Ser
ENST00000685269.1:n.2543A>G
ENST00000686011.1:c.2450A>G	ENSP00000509704.1:p.Asn817Ser
ENST00000687109.1:c.2468A>G	ENSP00000509371.1:p.Asn823Ser
ENST00000687208.1:n.2877A>G
ENST00000687246.1:c.2349+1175A>G	ENSP00000509114.1:n.2349+1175A>G
ENST00000687265.1:n.2623A>G
ENST00000687295.1:c.2453A>G	ENSP00000509450.1:p.Asn818Ser
ENST00000688060.1:n.262A>G
ENST00000688704.1:n.1477A>G
ENST00000689832.1:c.2465A>G	ENSP00000509084.1:p.Asn822Ser
ENST00000689994.1:c.1955A>G	ENSP00000509156.1:p.Asn652Ser
ENST00000690543.1:c.2456A>G	ENSP00000508831.1:p.Asn819Ser
ENST00000690917.1:n.2683A>G
ENST00000691361.1:n.1375A>G
ENST00000692783.1:c.2462A>G	ENSP00000508733.1:p.Asn821Ser
ENST00000692991.1:n.2562A>G
ENST00000288135.6:c.2465A>G MANE Select	ENSP00000288135.6:p.Asn822Ser
ENST00000288135.5:c.2465A>G	ENSP00000288135.5:p.Asn822Ser
ENST00000412167.6:c.2453A>G	ENSP00000390987.2:p.Asn818Ser
ENST00000512959.1:n.518A>G
NM_000222.2:c.2465A>G , LRG_307t1:c.2465A>G	NP_000213.1:p.Asn822Ser
NM_001093772.1:c.2453A>G	NP_001087241.1:p.Asn818Ser
XM_005265740.1:c.2468A>G	XP_005265797.1:p.Asn823Ser
XM_005265741.1:c.2465A>G	XP_005265798.1:p.Asn822Ser
XM_005265742.1:c.2456A>G	XP_005265799.1:p.Asn819Ser
XM_005265742.3:c.2456A>G	XP_005265799.1:p.Asn819Ser
XM_017008178.1:c.2462A>G	XP_016863667.1:p.Asn821Ser
XM_017008179.1:c.2453A>G	XP_016863668.1:p.Asn818Ser
XM_017008180.1:c.2450A>G	XP_016863669.1:p.Asn817Ser
NM_000222.3:c.2465A>G MANE Select	NP_000213.1:p.Asn822Ser
NM_001093772.2:c.2453A>G	NP_001087241.1:p.Asn818Ser
NM_001385284.1:c.2468A>G	NP_001372213.1:p.Asn823Ser
NM_001385285.1:c.2462A>G	NP_001372214.1:p.Asn821Ser
NM_001385286.1:c.2450A>G	NP_001372215.1:p.Asn817Ser
NM_001385288.1:c.2456A>G	NP_001372217.1:p.Asn819Ser
NM_001385290.1:c.2465A>G	NP_001372219.1:p.Asn822Ser
NM_001385292.1:c.2453A>G	NP_001372221.1:p.Asn818Ser