Canonical Allele Identifier: CA356913371

Gene: KIT

Linked Data

• dbSNP Id: rs2109811593
• MyVariant Identifiers: chr4:g.55602759G>A (hg19) ; chr4:g.54736593G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54736593G>A , CM000666.2:g.54736593G>A	GRCh38
NC_000004.11:g.55602759G>A , CM000666.1:g.55602759G>A	GRCh37
NC_000004.10:g.55297516G>A	NCBI36
NG_007456.1:g.83599G>A , LRG_307:g.83599G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2568G>A	ENSP00000390987.3:p.Trp856Ter
ENST00000684818.1:n.1272G>A
ENST00000685269.1:n.2658G>A
ENST00000686011.1:c.2565G>A	ENSP00000509704.1:p.Trp855Ter
ENST00000687109.1:c.2583G>A	ENSP00000509371.1:p.Trp861Ter
ENST00000687208.1:n.2992G>A
ENST00000687246.1:c.2445G>A	ENSP00000509114.1:p.Trp815Ter
ENST00000687265.1:n.2738G>A
ENST00000687295.1:c.2568G>A	ENSP00000509450.1:p.Trp856Ter
ENST00000688060.1:n.377G>A
ENST00000689832.1:c.2580G>A	ENSP00000509084.1:p.Trp860Ter
ENST00000689994.1:c.2070G>A	ENSP00000509156.1:p.Trp690Ter
ENST00000690543.1:c.2571G>A	ENSP00000508831.1:p.Trp857Ter
ENST00000690917.1:n.2798G>A
ENST00000691361.1:n.1490G>A
ENST00000692301.1:n.1272G>A
ENST00000692783.1:c.2577G>A	ENSP00000508733.1:p.Trp859Ter
ENST00000692991.1:n.2677G>A
ENST00000288135.6:c.2580G>A MANE Select	ENSP00000288135.6:p.Trp860Ter
ENST00000288135.5:c.2580G>A	ENSP00000288135.5:p.Trp860Ter
ENST00000412167.6:c.2568G>A	ENSP00000390987.2:p.Trp856Ter
NM_000222.2:c.2580G>A , LRG_307t1:c.2580G>A	NP_000213.1:p.Trp860Ter
NM_001093772.1:c.2568G>A	NP_001087241.1:p.Trp856Ter
XM_005265740.1:c.2583G>A	XP_005265797.1:p.Trp861Ter
XM_005265741.1:c.2580G>A	XP_005265798.1:p.Trp860Ter
XM_005265742.1:c.2571G>A	XP_005265799.1:p.Trp857Ter
XM_005265742.3:c.2571G>A	XP_005265799.1:p.Trp857Ter
XM_017008178.1:c.2577G>A	XP_016863667.1:p.Trp859Ter
XM_017008179.1:c.2568G>A	XP_016863668.1:p.Trp856Ter
XM_017008180.1:c.2565G>A	XP_016863669.1:p.Trp855Ter
NM_000222.3:c.2580G>A MANE Select	NP_000213.1:p.Trp860Ter
NM_001093772.2:c.2568G>A	NP_001087241.1:p.Trp856Ter
NM_001385284.1:c.2583G>A	NP_001372213.1:p.Trp861Ter
NM_001385285.1:c.2577G>A	NP_001372214.1:p.Trp859Ter
NM_001385286.1:c.2565G>A	NP_001372215.1:p.Trp855Ter
NM_001385288.1:c.2571G>A	NP_001372217.1:p.Trp857Ter
NM_001385290.1:c.2580G>A	NP_001372219.1:p.Trp860Ter
NM_001385292.1:c.2568G>A	NP_001372221.1:p.Trp856Ter