Canonical Allele Identifier: CA356912051

Gene: KIT

Linked Data

• COSMIC: COSM6006379
• MyVariant Identifiers: chr4:g.55599351A>C (hg19) ; chr4:g.54733185A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733185A>C , CM000666.2:g.54733185A>C	GRCh38
NC_000004.11:g.55599351A>C , CM000666.1:g.55599351A>C	GRCh37
NC_000004.10:g.55294108A>C	NCBI36
NG_007456.1:g.80191A>C , LRG_307:g.80191A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000412167.7:c.2465A>C	ENSP00000390987.3:p.Lys822Thr
ENST00000685269.1:n.2555A>C
ENST00000686011.1:c.2462A>C	ENSP00000509704.1:p.Lys821Thr
ENST00000687109.1:c.2480A>C	ENSP00000509371.1:p.Lys827Thr
ENST00000687208.1:n.2889A>C
ENST00000687246.1:c.2349+1187A>C	ENSP00000509114.1:n.2349+1187A>C
ENST00000687265.1:n.2635A>C
ENST00000687295.1:c.2465A>C	ENSP00000509450.1:p.Lys822Thr
ENST00000688060.1:n.274A>C
ENST00000688704.1:n.1489A>C
ENST00000689832.1:c.2477A>C	ENSP00000509084.1:p.Lys826Thr
ENST00000689994.1:c.1967A>C	ENSP00000509156.1:p.Lys656Thr
ENST00000690543.1:c.2468A>C	ENSP00000508831.1:p.Lys823Thr
ENST00000690917.1:n.2695A>C
ENST00000691361.1:n.1387A>C
ENST00000692783.1:c.2474A>C	ENSP00000508733.1:p.Lys825Thr
ENST00000692991.1:n.2574A>C
ENST00000288135.6:c.2477A>C MANE Select	ENSP00000288135.6:p.Lys826Thr
ENST00000288135.5:c.2477A>C	ENSP00000288135.5:p.Lys826Thr
ENST00000412167.6:c.2465A>C	ENSP00000390987.2:p.Lys822Thr
ENST00000512959.1:n.530A>C
NM_000222.2:c.2477A>C , LRG_307t1:c.2477A>C	NP_000213.1:p.Lys826Thr
NM_001093772.1:c.2465A>C	NP_001087241.1:p.Lys822Thr
XM_005265740.1:c.2480A>C	XP_005265797.1:p.Lys827Thr
XM_005265741.1:c.2477A>C	XP_005265798.1:p.Lys826Thr
XM_005265742.1:c.2468A>C	XP_005265799.1:p.Lys823Thr
XM_005265742.3:c.2468A>C	XP_005265799.1:p.Lys823Thr
XM_017008178.1:c.2474A>C	XP_016863667.1:p.Lys825Thr
XM_017008179.1:c.2465A>C	XP_016863668.1:p.Lys822Thr
XM_017008180.1:c.2462A>C	XP_016863669.1:p.Lys821Thr
NM_000222.3:c.2477A>C MANE Select	NP_000213.1:p.Lys826Thr
NM_001093772.2:c.2465A>C	NP_001087241.1:p.Lys822Thr
NM_001385284.1:c.2480A>C	NP_001372213.1:p.Lys827Thr
NM_001385285.1:c.2474A>C	NP_001372214.1:p.Lys825Thr
NM_001385286.1:c.2462A>C	NP_001372215.1:p.Lys821Thr
NM_001385288.1:c.2468A>C	NP_001372217.1:p.Lys823Thr
NM_001385290.1:c.2477A>C	NP_001372219.1:p.Lys826Thr
NM_001385292.1:c.2465A>C	NP_001372221.1:p.Lys822Thr