Canonical Allele Identifier: CA356911378

Gene: KIT

Linked Data

• dbSNP Id: rs2109801017
• MyVariant Identifiers: chr4:g.55599244C>G (hg19) ; chr4:g.54733078C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733078C>G , CM000666.2:g.54733078C>G	GRCh38
NC_000004.11:g.55599244C>G , CM000666.1:g.55599244C>G	GRCh37
NC_000004.10:g.55294001C>G	NCBI36
NG_007456.1:g.80084C>G , LRG_307:g.80084C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000412167.7:c.2358C>G	ENSP00000390987.3:p.His786Gln
ENST00000685269.1:n.2448C>G
ENST00000686011.1:c.2355C>G	ENSP00000509704.1:p.His785Gln
ENST00000687109.1:c.2373C>G	ENSP00000509371.1:p.His791Gln
ENST00000687208.1:n.2782C>G
ENST00000687246.1:c.2349+1080C>G	ENSP00000509114.1:n.2349+1080C>G
ENST00000687265.1:n.2528C>G
ENST00000687295.1:c.2358C>G	ENSP00000509450.1:p.His786Gln
ENST00000688060.1:n.167C>G
ENST00000688704.1:n.1382C>G
ENST00000689832.1:c.2370C>G	ENSP00000509084.1:p.His790Gln
ENST00000689994.1:c.1860C>G	ENSP00000509156.1:p.His620Gln
ENST00000690543.1:c.2361C>G	ENSP00000508831.1:p.His787Gln
ENST00000690917.1:n.2588C>G
ENST00000691361.1:n.1280C>G
ENST00000692783.1:c.2367C>G	ENSP00000508733.1:p.His789Gln
ENST00000692991.1:n.2467C>G
ENST00000288135.6:c.2370C>G MANE Select	ENSP00000288135.6:p.His790Gln
ENST00000288135.5:c.2370C>G	ENSP00000288135.5:p.His790Gln
ENST00000412167.6:c.2358C>G	ENSP00000390987.2:p.His786Gln
ENST00000512959.1:n.423C>G
NM_000222.2:c.2370C>G , LRG_307t1:c.2370C>G	NP_000213.1:p.His790Gln
NM_001093772.1:c.2358C>G	NP_001087241.1:p.His786Gln
XM_005265740.1:c.2373C>G	XP_005265797.1:p.His791Gln
XM_005265741.1:c.2370C>G	XP_005265798.1:p.His790Gln
XM_005265742.1:c.2361C>G	XP_005265799.1:p.His787Gln
XM_005265742.3:c.2361C>G	XP_005265799.1:p.His787Gln
XM_017008178.1:c.2367C>G	XP_016863667.1:p.His789Gln
XM_017008179.1:c.2358C>G	XP_016863668.1:p.His786Gln
XM_017008180.1:c.2355C>G	XP_016863669.1:p.His785Gln
NM_000222.3:c.2370C>G MANE Select	NP_000213.1:p.His790Gln
NM_001093772.2:c.2358C>G	NP_001087241.1:p.His786Gln
NM_001385284.1:c.2373C>G	NP_001372213.1:p.His791Gln
NM_001385285.1:c.2367C>G	NP_001372214.1:p.His789Gln
NM_001385286.1:c.2355C>G	NP_001372215.1:p.His785Gln
NM_001385288.1:c.2361C>G	NP_001372217.1:p.His787Gln
NM_001385290.1:c.2370C>G	NP_001372219.1:p.His790Gln
NM_001385292.1:c.2358C>G	NP_001372221.1:p.His786Gln