Canonical Allele Identifier: CA356911949

Gene: KIT

Linked Data

• dbSNP Id: rs1057519710
• gnomAD v4: 4-54733166-G-A
• COSMIC: COSM17947
• MyVariant Identifiers: chr4:g.55599332G>A (hg19) ; chr4:g.54733166G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733166G>A , CM000666.2:g.54733166G>A	GRCh38
NC_000004.11:g.55599332G>A , CM000666.1:g.55599332G>A	GRCh37
NC_000004.10:g.55294089G>A	NCBI36
NG_007456.1:g.80172G>A , LRG_307:g.80172G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000412167.7:c.2446G>A	ENSP00000390987.3:p.Asp816Asn
ENST00000685269.1:n.2536G>A
ENST00000686011.1:c.2443G>A	ENSP00000509704.1:p.Asp815Asn
ENST00000687109.1:c.2461G>A	ENSP00000509371.1:p.Asp821Asn
ENST00000687208.1:n.2870G>A
ENST00000687246.1:c.2349+1168G>A	ENSP00000509114.1:n.2349+1168G>A
ENST00000687265.1:n.2616G>A
ENST00000687295.1:c.2446G>A	ENSP00000509450.1:p.Asp816Asn
ENST00000688060.1:n.255G>A
ENST00000688704.1:n.1470G>A
ENST00000689832.1:c.2458G>A	ENSP00000509084.1:p.Asp820Asn
ENST00000689994.1:c.1948G>A	ENSP00000509156.1:p.Asp650Asn
ENST00000690543.1:c.2449G>A	ENSP00000508831.1:p.Asp817Asn
ENST00000690917.1:n.2676G>A
ENST00000691361.1:n.1368G>A
ENST00000692783.1:c.2455G>A	ENSP00000508733.1:p.Asp819Asn
ENST00000692991.1:n.2555G>A
ENST00000288135.6:c.2458G>A MANE Select	ENSP00000288135.6:p.Asp820Asn
ENST00000288135.5:c.2458G>A	ENSP00000288135.5:p.Asp820Asn
ENST00000412167.6:c.2446G>A	ENSP00000390987.2:p.Asp816Asn
ENST00000512959.1:n.511G>A
NM_000222.2:c.2458G>A , LRG_307t1:c.2458G>A	NP_000213.1:p.Asp820Asn
NM_001093772.1:c.2446G>A	NP_001087241.1:p.Asp816Asn
XM_005265740.1:c.2461G>A	XP_005265797.1:p.Asp821Asn
XM_005265741.1:c.2458G>A	XP_005265798.1:p.Asp820Asn
XM_005265742.1:c.2449G>A	XP_005265799.1:p.Asp817Asn
XM_005265742.3:c.2449G>A	XP_005265799.1:p.Asp817Asn
XM_017008178.1:c.2455G>A	XP_016863667.1:p.Asp819Asn
XM_017008179.1:c.2446G>A	XP_016863668.1:p.Asp816Asn
XM_017008180.1:c.2443G>A	XP_016863669.1:p.Asp815Asn
NM_000222.3:c.2458G>A MANE Select	NP_000213.1:p.Asp820Asn
NM_001093772.2:c.2446G>A	NP_001087241.1:p.Asp816Asn
NM_001385284.1:c.2461G>A	NP_001372213.1:p.Asp821Asn
NM_001385285.1:c.2455G>A	NP_001372214.1:p.Asp819Asn
NM_001385286.1:c.2443G>A	NP_001372215.1:p.Asp815Asn
NM_001385288.1:c.2449G>A	NP_001372217.1:p.Asp817Asn
NM_001385290.1:c.2458G>A	NP_001372219.1:p.Asp820Asn
NM_001385292.1:c.2446G>A	NP_001372221.1:p.Asp816Asn