Canonical Allele Identifier: CA356911715

Gene: KIT

Linked Data

• ClinVar Variation Id: 2579851
• ClinVar RCV Id: RCV003328826
• MyVariant Identifiers: chr4:g.55599296A>T (hg19) ; chr4:g.54733130A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733130A>T , CM000666.2:g.54733130A>T	GRCh38
NC_000004.11:g.55599296A>T , CM000666.1:g.55599296A>T	GRCh37
NC_000004.10:g.55294053A>T	NCBI36
NG_007456.1:g.80136A>T , LRG_307:g.80136A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2410A>T	ENSP00000390987.3:p.Ile804Phe
ENST00000685269.1:n.2500A>T
ENST00000686011.1:c.2407A>T	ENSP00000509704.1:p.Ile803Phe
ENST00000687109.1:c.2425A>T	ENSP00000509371.1:p.Ile809Phe
ENST00000687208.1:n.2834A>T
ENST00000687246.1:c.2349+1132A>T	ENSP00000509114.1:n.2349+1132A>T
ENST00000687265.1:n.2580A>T
ENST00000687295.1:c.2410A>T	ENSP00000509450.1:p.Ile804Phe
ENST00000688060.1:n.219A>T
ENST00000688704.1:n.1434A>T
ENST00000689832.1:c.2422A>T	ENSP00000509084.1:p.Ile808Phe
ENST00000689994.1:c.1912A>T	ENSP00000509156.1:p.Ile638Phe
ENST00000690543.1:c.2413A>T	ENSP00000508831.1:p.Ile805Phe
ENST00000690917.1:n.2640A>T
ENST00000691361.1:n.1332A>T
ENST00000692783.1:c.2419A>T	ENSP00000508733.1:p.Ile807Phe
ENST00000692991.1:n.2519A>T
ENST00000288135.6:c.2422A>T MANE Select	ENSP00000288135.6:p.Ile808Phe
ENST00000288135.5:c.2422A>T	ENSP00000288135.5:p.Ile808Phe
ENST00000412167.6:c.2410A>T	ENSP00000390987.2:p.Ile804Phe
ENST00000512959.1:n.475A>T
NM_000222.2:c.2422A>T , LRG_307t1:c.2422A>T	NP_000213.1:p.Ile808Phe
NM_001093772.1:c.2410A>T	NP_001087241.1:p.Ile804Phe
XM_005265740.1:c.2425A>T	XP_005265797.1:p.Ile809Phe
XM_005265741.1:c.2422A>T	XP_005265798.1:p.Ile808Phe
XM_005265742.1:c.2413A>T	XP_005265799.1:p.Ile805Phe
XM_005265742.3:c.2413A>T	XP_005265799.1:p.Ile805Phe
XM_017008178.1:c.2419A>T	XP_016863667.1:p.Ile807Phe
XM_017008179.1:c.2410A>T	XP_016863668.1:p.Ile804Phe
XM_017008180.1:c.2407A>T	XP_016863669.1:p.Ile803Phe
NM_000222.3:c.2422A>T MANE Select	NP_000213.1:p.Ile808Phe
NM_001093772.2:c.2410A>T	NP_001087241.1:p.Ile804Phe
NM_001385284.1:c.2425A>T	NP_001372213.1:p.Ile809Phe
NM_001385285.1:c.2419A>T	NP_001372214.1:p.Ile807Phe
NM_001385286.1:c.2407A>T	NP_001372215.1:p.Ile803Phe
NM_001385288.1:c.2413A>T	NP_001372217.1:p.Ile805Phe
NM_001385290.1:c.2422A>T	NP_001372219.1:p.Ile808Phe
NM_001385292.1:c.2410A>T	NP_001372221.1:p.Ile804Phe