Canonical Allele Identifier: CA356911785

Gene: KIT

Linked Data

• MyVariant Identifiers: chr4:g.55599307T>G (hg19) ; chr4:g.54733141T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733141T>G , CM000666.2:g.54733141T>G	GRCh38
NC_000004.11:g.55599307T>G , CM000666.1:g.55599307T>G	GRCh37
NC_000004.10:g.55294064T>G	NCBI36
NG_007456.1:g.80147T>G , LRG_307:g.80147T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2421T>G	ENSP00000390987.3:p.Phe807Leu
ENST00000685269.1:n.2511T>G
ENST00000686011.1:c.2418T>G	ENSP00000509704.1:p.Phe806Leu
ENST00000687109.1:c.2436T>G	ENSP00000509371.1:p.Phe812Leu
ENST00000687208.1:n.2845T>G
ENST00000687246.1:c.2349+1143T>G	ENSP00000509114.1:n.2349+1143T>G
ENST00000687265.1:n.2591T>G
ENST00000687295.1:c.2421T>G	ENSP00000509450.1:p.Phe807Leu
ENST00000688060.1:n.230T>G
ENST00000688704.1:n.1445T>G
ENST00000689832.1:c.2433T>G	ENSP00000509084.1:p.Phe811Leu
ENST00000689994.1:c.1923T>G	ENSP00000509156.1:p.Phe641Leu
ENST00000690543.1:c.2424T>G	ENSP00000508831.1:p.Phe808Leu
ENST00000690917.1:n.2651T>G
ENST00000691361.1:n.1343T>G
ENST00000692783.1:c.2430T>G	ENSP00000508733.1:p.Phe810Leu
ENST00000692991.1:n.2530T>G
ENST00000288135.6:c.2433T>G MANE Select	ENSP00000288135.6:p.Phe811Leu
ENST00000288135.5:c.2433T>G	ENSP00000288135.5:p.Phe811Leu
ENST00000412167.6:c.2421T>G	ENSP00000390987.2:p.Phe807Leu
ENST00000512959.1:n.486T>G
NM_000222.2:c.2433T>G , LRG_307t1:c.2433T>G	NP_000213.1:p.Phe811Leu
NM_001093772.1:c.2421T>G	NP_001087241.1:p.Phe807Leu
XM_005265740.1:c.2436T>G	XP_005265797.1:p.Phe812Leu
XM_005265741.1:c.2433T>G	XP_005265798.1:p.Phe811Leu
XM_005265742.1:c.2424T>G	XP_005265799.1:p.Phe808Leu
XM_005265742.3:c.2424T>G	XP_005265799.1:p.Phe808Leu
XM_017008178.1:c.2430T>G	XP_016863667.1:p.Phe810Leu
XM_017008179.1:c.2421T>G	XP_016863668.1:p.Phe807Leu
XM_017008180.1:c.2418T>G	XP_016863669.1:p.Phe806Leu
NM_000222.3:c.2433T>G MANE Select	NP_000213.1:p.Phe811Leu
NM_001093772.2:c.2421T>G	NP_001087241.1:p.Phe807Leu
NM_001385284.1:c.2436T>G	NP_001372213.1:p.Phe812Leu
NM_001385285.1:c.2430T>G	NP_001372214.1:p.Phe810Leu
NM_001385286.1:c.2418T>G	NP_001372215.1:p.Phe806Leu
NM_001385288.1:c.2424T>G	NP_001372217.1:p.Phe808Leu
NM_001385290.1:c.2433T>G	NP_001372219.1:p.Phe811Leu
NM_001385292.1:c.2421T>G	NP_001372221.1:p.Phe807Leu