Canonical Allele Identifier: CA356911992

Gene: KIT

Linked Data

• dbSNP Id: rs2109801930
• MyVariant Identifiers: chr4:g.55599342A>T (hg19) ; chr4:g.54733176A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733176A>T , CM000666.2:g.54733176A>T	GRCh38
NC_000004.11:g.55599342A>T , CM000666.1:g.55599342A>T	GRCh37
NC_000004.10:g.55294099A>T	NCBI36
NG_007456.1:g.80182A>T , LRG_307:g.80182A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2456A>T	ENSP00000390987.3:p.Tyr819Phe
ENST00000685269.1:n.2546A>T
ENST00000686011.1:c.2453A>T	ENSP00000509704.1:p.Tyr818Phe
ENST00000687109.1:c.2471A>T	ENSP00000509371.1:p.Tyr824Phe
ENST00000687208.1:n.2880A>T
ENST00000687246.1:c.2349+1178A>T	ENSP00000509114.1:n.2349+1178A>T
ENST00000687265.1:n.2626A>T
ENST00000687295.1:c.2456A>T	ENSP00000509450.1:p.Tyr819Phe
ENST00000688060.1:n.265A>T
ENST00000688704.1:n.1480A>T
ENST00000689832.1:c.2468A>T	ENSP00000509084.1:p.Tyr823Phe
ENST00000689994.1:c.1958A>T	ENSP00000509156.1:p.Tyr653Phe
ENST00000690543.1:c.2459A>T	ENSP00000508831.1:p.Tyr820Phe
ENST00000690917.1:n.2686A>T
ENST00000691361.1:n.1378A>T
ENST00000692783.1:c.2465A>T	ENSP00000508733.1:p.Tyr822Phe
ENST00000692991.1:n.2565A>T
ENST00000288135.6:c.2468A>T MANE Select	ENSP00000288135.6:p.Tyr823Phe
ENST00000288135.5:c.2468A>T	ENSP00000288135.5:p.Tyr823Phe
ENST00000412167.6:c.2456A>T	ENSP00000390987.2:p.Tyr819Phe
ENST00000512959.1:n.521A>T
NM_000222.2:c.2468A>T , LRG_307t1:c.2468A>T	NP_000213.1:p.Tyr823Phe
NM_001093772.1:c.2456A>T	NP_001087241.1:p.Tyr819Phe
XM_005265740.1:c.2471A>T	XP_005265797.1:p.Tyr824Phe
XM_005265741.1:c.2468A>T	XP_005265798.1:p.Tyr823Phe
XM_005265742.1:c.2459A>T	XP_005265799.1:p.Tyr820Phe
XM_005265742.3:c.2459A>T	XP_005265799.1:p.Tyr820Phe
XM_017008178.1:c.2465A>T	XP_016863667.1:p.Tyr822Phe
XM_017008179.1:c.2456A>T	XP_016863668.1:p.Tyr819Phe
XM_017008180.1:c.2453A>T	XP_016863669.1:p.Tyr818Phe
NM_000222.3:c.2468A>T MANE Select	NP_000213.1:p.Tyr823Phe
NM_001093772.2:c.2456A>T	NP_001087241.1:p.Tyr819Phe
NM_001385284.1:c.2471A>T	NP_001372213.1:p.Tyr824Phe
NM_001385285.1:c.2465A>T	NP_001372214.1:p.Tyr822Phe
NM_001385286.1:c.2453A>T	NP_001372215.1:p.Tyr818Phe
NM_001385288.1:c.2459A>T	NP_001372217.1:p.Tyr820Phe
NM_001385290.1:c.2468A>T	NP_001372219.1:p.Tyr823Phe
NM_001385292.1:c.2456A>T	NP_001372221.1:p.Tyr819Phe