Canonical Allele Identifier: CA356911825

Gene: KIT

Linked Data

• dbSNP Id: rs2109801654
• MyVariant Identifiers: chr4:g.55599314G>A (hg19) ; chr4:g.54733148G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733148G>A , CM000666.2:g.54733148G>A	GRCh38
NC_000004.11:g.55599314G>A , CM000666.1:g.55599314G>A	GRCh37
NC_000004.10:g.55294071G>A	NCBI36
NG_007456.1:g.80154G>A , LRG_307:g.80154G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2428G>A	ENSP00000390987.3:p.Ala810Thr
ENST00000685269.1:n.2518G>A
ENST00000686011.1:c.2425G>A	ENSP00000509704.1:p.Ala809Thr
ENST00000687109.1:c.2443G>A	ENSP00000509371.1:p.Ala815Thr
ENST00000687208.1:n.2852G>A
ENST00000687246.1:c.2349+1150G>A	ENSP00000509114.1:n.2349+1150G>A
ENST00000687265.1:n.2598G>A
ENST00000687295.1:c.2428G>A	ENSP00000509450.1:p.Ala810Thr
ENST00000688060.1:n.237G>A
ENST00000688704.1:n.1452G>A
ENST00000689832.1:c.2440G>A	ENSP00000509084.1:p.Ala814Thr
ENST00000689994.1:c.1930G>A	ENSP00000509156.1:p.Ala644Thr
ENST00000690543.1:c.2431G>A	ENSP00000508831.1:p.Ala811Thr
ENST00000690917.1:n.2658G>A
ENST00000691361.1:n.1350G>A
ENST00000692783.1:c.2437G>A	ENSP00000508733.1:p.Ala813Thr
ENST00000692991.1:n.2537G>A
ENST00000288135.6:c.2440G>A MANE Select	ENSP00000288135.6:p.Ala814Thr
ENST00000288135.5:c.2440G>A	ENSP00000288135.5:p.Ala814Thr
ENST00000412167.6:c.2428G>A	ENSP00000390987.2:p.Ala810Thr
ENST00000512959.1:n.493G>A
NM_000222.2:c.2440G>A , LRG_307t1:c.2440G>A	NP_000213.1:p.Ala814Thr
NM_001093772.1:c.2428G>A	NP_001087241.1:p.Ala810Thr
XM_005265740.1:c.2443G>A	XP_005265797.1:p.Ala815Thr
XM_005265741.1:c.2440G>A	XP_005265798.1:p.Ala814Thr
XM_005265742.1:c.2431G>A	XP_005265799.1:p.Ala811Thr
XM_005265742.3:c.2431G>A	XP_005265799.1:p.Ala811Thr
XM_017008178.1:c.2437G>A	XP_016863667.1:p.Ala813Thr
XM_017008179.1:c.2428G>A	XP_016863668.1:p.Ala810Thr
XM_017008180.1:c.2425G>A	XP_016863669.1:p.Ala809Thr
NM_000222.3:c.2440G>A MANE Select	NP_000213.1:p.Ala814Thr
NM_001093772.2:c.2428G>A	NP_001087241.1:p.Ala810Thr
NM_001385284.1:c.2443G>A	NP_001372213.1:p.Ala815Thr
NM_001385285.1:c.2437G>A	NP_001372214.1:p.Ala813Thr
NM_001385286.1:c.2425G>A	NP_001372215.1:p.Ala809Thr
NM_001385288.1:c.2431G>A	NP_001372217.1:p.Ala811Thr
NM_001385290.1:c.2440G>A	NP_001372219.1:p.Ala814Thr
NM_001385292.1:c.2428G>A	NP_001372221.1:p.Ala810Thr