Canonical Allele Identifier: CA356911389

Gene: KIT

Linked Data

• MyVariant Identifiers: chr4:g.55599245A>T (hg19) ; chr4:g.54733079A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733079A>T , CM000666.2:g.54733079A>T	GRCh38
NC_000004.11:g.55599245A>T , CM000666.1:g.55599245A>T	GRCh37
NC_000004.10:g.55294002A>T	NCBI36
NG_007456.1:g.80085A>T , LRG_307:g.80085A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000412167.7:c.2359A>T	ENSP00000390987.3:p.Arg787Ter
ENST00000685269.1:n.2449A>T
ENST00000686011.1:c.2356A>T	ENSP00000509704.1:p.Arg786Ter
ENST00000687109.1:c.2374A>T	ENSP00000509371.1:p.Arg792Ter
ENST00000687208.1:n.2783A>T
ENST00000687246.1:c.2349+1081A>T	ENSP00000509114.1:n.2349+1081A>T
ENST00000687265.1:n.2529A>T
ENST00000687295.1:c.2359A>T	ENSP00000509450.1:p.Arg787Ter
ENST00000688060.1:n.168A>T
ENST00000688704.1:n.1383A>T
ENST00000689832.1:c.2371A>T	ENSP00000509084.1:p.Arg791Ter
ENST00000689994.1:c.1861A>T	ENSP00000509156.1:p.Arg621Ter
ENST00000690543.1:c.2362A>T	ENSP00000508831.1:p.Arg788Ter
ENST00000690917.1:n.2589A>T
ENST00000691361.1:n.1281A>T
ENST00000692783.1:c.2368A>T	ENSP00000508733.1:p.Arg790Ter
ENST00000692991.1:n.2468A>T
ENST00000288135.6:c.2371A>T MANE Select	ENSP00000288135.6:p.Arg791Ter
ENST00000288135.5:c.2371A>T	ENSP00000288135.5:p.Arg791Ter
ENST00000412167.6:c.2359A>T	ENSP00000390987.2:p.Arg787Ter
ENST00000512959.1:n.424A>T
NM_000222.2:c.2371A>T , LRG_307t1:c.2371A>T	NP_000213.1:p.Arg791Ter
NM_001093772.1:c.2359A>T	NP_001087241.1:p.Arg787Ter
XM_005265740.1:c.2374A>T	XP_005265797.1:p.Arg792Ter
XM_005265741.1:c.2371A>T	XP_005265798.1:p.Arg791Ter
XM_005265742.1:c.2362A>T	XP_005265799.1:p.Arg788Ter
XM_005265742.3:c.2362A>T	XP_005265799.1:p.Arg788Ter
XM_017008178.1:c.2368A>T	XP_016863667.1:p.Arg790Ter
XM_017008179.1:c.2359A>T	XP_016863668.1:p.Arg787Ter
XM_017008180.1:c.2356A>T	XP_016863669.1:p.Arg786Ter
NM_000222.3:c.2371A>T MANE Select	NP_000213.1:p.Arg791Ter
NM_001093772.2:c.2359A>T	NP_001087241.1:p.Arg787Ter
NM_001385284.1:c.2374A>T	NP_001372213.1:p.Arg792Ter
NM_001385285.1:c.2368A>T	NP_001372214.1:p.Arg790Ter
NM_001385286.1:c.2356A>T	NP_001372215.1:p.Arg786Ter
NM_001385288.1:c.2362A>T	NP_001372217.1:p.Arg788Ter
NM_001385290.1:c.2371A>T	NP_001372219.1:p.Arg791Ter
NM_001385292.1:c.2359A>T	NP_001372221.1:p.Arg787Ter