Canonical Allele Identifier: CA356911352

Gene: KIT

Linked Data

• dbSNP Id: rs2109800969
• COSMIC: COSM133752
• MyVariant Identifiers: chr4:g.55599240T>C (hg19) ; chr4:g.54733074T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733074T>C , CM000666.2:g.54733074T>C	GRCh38
NC_000004.11:g.55599240T>C , CM000666.1:g.55599240T>C	GRCh37
NC_000004.10:g.55293997T>C	NCBI36
NG_007456.1:g.80080T>C , LRG_307:g.80080T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000412167.7:c.2354T>C	ENSP00000390987.3:p.Ile785Thr
ENST00000685269.1:n.2444T>C
ENST00000686011.1:c.2351T>C	ENSP00000509704.1:p.Ile784Thr
ENST00000687109.1:c.2369T>C	ENSP00000509371.1:p.Ile790Thr
ENST00000687208.1:n.2778T>C
ENST00000687246.1:c.2349+1076T>C	ENSP00000509114.1:n.2349+1076T>C
ENST00000687265.1:n.2524T>C
ENST00000687295.1:c.2354T>C	ENSP00000509450.1:p.Ile785Thr
ENST00000688060.1:n.163T>C
ENST00000688704.1:n.1378T>C
ENST00000689832.1:c.2366T>C	ENSP00000509084.1:p.Ile789Thr
ENST00000689994.1:c.1856T>C	ENSP00000509156.1:p.Ile619Thr
ENST00000690543.1:c.2357T>C	ENSP00000508831.1:p.Ile786Thr
ENST00000690917.1:n.2584T>C
ENST00000691361.1:n.1276T>C
ENST00000692783.1:c.2363T>C	ENSP00000508733.1:p.Ile788Thr
ENST00000692991.1:n.2463T>C
ENST00000288135.6:c.2366T>C MANE Select	ENSP00000288135.6:p.Ile789Thr
ENST00000288135.5:c.2366T>C	ENSP00000288135.5:p.Ile789Thr
ENST00000412167.6:c.2354T>C	ENSP00000390987.2:p.Ile785Thr
ENST00000512959.1:n.419T>C
NM_000222.2:c.2366T>C , LRG_307t1:c.2366T>C	NP_000213.1:p.Ile789Thr
NM_001093772.1:c.2354T>C	NP_001087241.1:p.Ile785Thr
XM_005265740.1:c.2369T>C	XP_005265797.1:p.Ile790Thr
XM_005265741.1:c.2366T>C	XP_005265798.1:p.Ile789Thr
XM_005265742.1:c.2357T>C	XP_005265799.1:p.Ile786Thr
XM_005265742.3:c.2357T>C	XP_005265799.1:p.Ile786Thr
XM_017008178.1:c.2363T>C	XP_016863667.1:p.Ile788Thr
XM_017008179.1:c.2354T>C	XP_016863668.1:p.Ile785Thr
XM_017008180.1:c.2351T>C	XP_016863669.1:p.Ile784Thr
NM_000222.3:c.2366T>C MANE Select	NP_000213.1:p.Ile789Thr
NM_001093772.2:c.2354T>C	NP_001087241.1:p.Ile785Thr
NM_001385284.1:c.2369T>C	NP_001372213.1:p.Ile790Thr
NM_001385285.1:c.2363T>C	NP_001372214.1:p.Ile788Thr
NM_001385286.1:c.2351T>C	NP_001372215.1:p.Ile784Thr
NM_001385288.1:c.2357T>C	NP_001372217.1:p.Ile786Thr
NM_001385290.1:c.2366T>C	NP_001372219.1:p.Ile789Thr
NM_001385292.1:c.2354T>C	NP_001372221.1:p.Ile785Thr