Canonical Allele Identifier: CA16611610

Gene: KIT

Linked Data

• ClinVar Variation Id: 409781
• ClinVar RCV Id: RCV000472192 ; RCV001015861
• dbSNP Id: rs147609111
• gnomAD v2: 4-55602710-G-A
• gnomAD v4: 4-54736544-G-A
• COSMIC: COSM133780
• MyVariant Identifiers: chr4:g.55602710G>A (hg19) ; chr4:g.54736544G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54736544G>A , CM000666.2:g.54736544G>A	GRCh38
NC_000004.11:g.55602710G>A , CM000666.1:g.55602710G>A	GRCh37
NC_000004.10:g.55297467G>A	NCBI36
NG_007456.1:g.83550G>A , LRG_307:g.83550G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2519G>A	ENSP00000390987.3:p.Cys840Tyr
ENST00000684818.1:n.1223G>A
ENST00000685269.1:n.2609G>A
ENST00000686011.1:c.2516G>A	ENSP00000509704.1:p.Cys839Tyr
ENST00000687109.1:c.2534G>A	ENSP00000509371.1:p.Cys845Tyr
ENST00000687208.1:n.2943G>A
ENST00000687246.1:c.2396G>A	ENSP00000509114.1:p.Cys799Tyr
ENST00000687265.1:n.2689G>A
ENST00000687295.1:c.2519G>A	ENSP00000509450.1:p.Cys840Tyr
ENST00000688060.1:n.328G>A
ENST00000689832.1:c.2531G>A	ENSP00000509084.1:p.Cys844Tyr
ENST00000689994.1:c.2021G>A	ENSP00000509156.1:p.Cys674Tyr
ENST00000690543.1:c.2522G>A	ENSP00000508831.1:p.Cys841Tyr
ENST00000690917.1:n.2749G>A
ENST00000691361.1:n.1441G>A
ENST00000692301.1:n.1223G>A
ENST00000692783.1:c.2528G>A	ENSP00000508733.1:p.Cys843Tyr
ENST00000692991.1:n.2628G>A
ENST00000288135.6:c.2531G>A MANE Select	ENSP00000288135.6:p.Cys844Tyr
ENST00000288135.5:c.2531G>A	ENSP00000288135.5:p.Cys844Tyr
ENST00000412167.6:c.2519G>A	ENSP00000390987.2:p.Cys840Tyr
NM_000222.2:c.2531G>A , LRG_307t1:c.2531G>A	NP_000213.1:p.Cys844Tyr
NM_001093772.1:c.2519G>A	NP_001087241.1:p.Cys840Tyr
XM_005265740.1:c.2534G>A	XP_005265797.1:p.Cys845Tyr
XM_005265741.1:c.2531G>A	XP_005265798.1:p.Cys844Tyr
XM_005265742.1:c.2522G>A	XP_005265799.1:p.Cys841Tyr
XM_005265742.3:c.2522G>A	XP_005265799.1:p.Cys841Tyr
XM_017008178.1:c.2528G>A	XP_016863667.1:p.Cys843Tyr
XM_017008179.1:c.2519G>A	XP_016863668.1:p.Cys840Tyr
XM_017008180.1:c.2516G>A	XP_016863669.1:p.Cys839Tyr
NM_000222.3:c.2531G>A MANE Select	NP_000213.1:p.Cys844Tyr
NM_001093772.2:c.2519G>A	NP_001087241.1:p.Cys840Tyr
NM_001385284.1:c.2534G>A	NP_001372213.1:p.Cys845Tyr
NM_001385285.1:c.2528G>A	NP_001372214.1:p.Cys843Tyr
NM_001385286.1:c.2516G>A	NP_001372215.1:p.Cys839Tyr
NM_001385288.1:c.2522G>A	NP_001372217.1:p.Cys841Tyr
NM_001385290.1:c.2531G>A	NP_001372219.1:p.Cys844Tyr
NM_001385292.1:c.2519G>A	NP_001372221.1:p.Cys840Tyr