Canonical Allele Identifier: CA439291885

Gene: KIT

Linked Data

• ClinVar Variation Id: 1096810
• ClinVar RCV Id: RCV001418166
• dbSNP Id: rs121913514
• COSMIC: COSM1319
• MyVariant Identifiers: chr4:g.55599340T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733174T>C , CM000666.2:g.54733174T>C	GRCh38
NC_000004.11:g.55599340T>C , CM000666.1:g.55599340T>C	GRCh37
NC_000004.10:g.55294097T>C	NCBI36
NG_007456.1:g.80180T>C , LRG_307:g.80180T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2454T>C	ENSP00000390987.3:p.Asn818=
ENST00000685269.1:n.2544T>C
ENST00000686011.1:c.2451T>C	ENSP00000509704.1:p.Asn817=
ENST00000687109.1:c.2469T>C	ENSP00000509371.1:p.Asn823=
ENST00000687208.1:n.2878T>C
ENST00000687246.1:c.2349+1176T>C	ENSP00000509114.1:n.2349+1176T>C
ENST00000687265.1:n.2624T>C
ENST00000687295.1:c.2454T>C	ENSP00000509450.1:p.Asn818=
ENST00000688060.1:n.263T>C
ENST00000688704.1:n.1478T>C
ENST00000689832.1:c.2466T>C	ENSP00000509084.1:p.Asn822=
ENST00000689994.1:c.1956T>C	ENSP00000509156.1:p.Asn652=
ENST00000690543.1:c.2457T>C	ENSP00000508831.1:p.Asn819=
ENST00000690917.1:n.2684T>C
ENST00000691361.1:n.1376T>C
ENST00000692783.1:c.2463T>C	ENSP00000508733.1:p.Asn821=
ENST00000692991.1:n.2563T>C
ENST00000288135.6:c.2466T>C MANE Select	ENSP00000288135.6:p.Asn822=
ENST00000288135.5:c.2466T>C	ENSP00000288135.5:p.Asn822=
ENST00000412167.6:c.2454T>C	ENSP00000390987.2:p.Asn818=
ENST00000512959.1:n.519T>C
NM_000222.2:c.2466T>C , LRG_307t1:c.2466T>C	NP_000213.1:p.Asn822=
NM_001093772.1:c.2454T>C	NP_001087241.1:p.Asn818=
XM_005265740.1:c.2469T>C	XP_005265797.1:p.Asn823=
XM_005265741.1:c.2466T>C	XP_005265798.1:p.Asn822=
XM_005265742.1:c.2457T>C	XP_005265799.1:p.Asn819=
XM_005265742.3:c.2457T>C	XP_005265799.1:p.Asn819=
XM_017008178.1:c.2463T>C	XP_016863667.1:p.Asn821=
XM_017008179.1:c.2454T>C	XP_016863668.1:p.Asn818=
XM_017008180.1:c.2451T>C	XP_016863669.1:p.Asn817=
NM_000222.3:c.2466T>C MANE Select	NP_000213.1:p.Asn822=
NM_001093772.2:c.2454T>C	NP_001087241.1:p.Asn818=
NM_001385284.1:c.2469T>C	NP_001372213.1:p.Asn823=
NM_001385285.1:c.2463T>C	NP_001372214.1:p.Asn821=
NM_001385286.1:c.2451T>C	NP_001372215.1:p.Asn817=
NM_001385288.1:c.2457T>C	NP_001372217.1:p.Asn819=
NM_001385290.1:c.2466T>C	NP_001372219.1:p.Asn822=
NM_001385292.1:c.2454T>C	NP_001372221.1:p.Asn818=