Canonical Allele Identifier: CA356913117

Gene: KIT

Linked Data

• ClinVar Variation Id: 1792699
• ClinVar RCV Id: RCV002433163
• dbSNP Id: rs2109811197
• MyVariant Identifiers: chr4:g.55602709T>C (hg19) ; chr4:g.54736543T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54736543T>C , CM000666.2:g.54736543T>C	GRCh38
NC_000004.11:g.55602709T>C , CM000666.1:g.55602709T>C	GRCh37
NC_000004.10:g.55297466T>C	NCBI36
NG_007456.1:g.83549T>C , LRG_307:g.83549T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000412167.7:c.2518T>C	ENSP00000390987.3:p.Cys840Arg
ENST00000684818.1:n.1222T>C
ENST00000685269.1:n.2608T>C
ENST00000686011.1:c.2515T>C	ENSP00000509704.1:p.Cys839Arg
ENST00000687109.1:c.2533T>C	ENSP00000509371.1:p.Cys845Arg
ENST00000687208.1:n.2942T>C
ENST00000687246.1:c.2395T>C	ENSP00000509114.1:p.Cys799Arg
ENST00000687265.1:n.2688T>C
ENST00000687295.1:c.2518T>C	ENSP00000509450.1:p.Cys840Arg
ENST00000688060.1:n.327T>C
ENST00000689832.1:c.2530T>C	ENSP00000509084.1:p.Cys844Arg
ENST00000689994.1:c.2020T>C	ENSP00000509156.1:p.Cys674Arg
ENST00000690543.1:c.2521T>C	ENSP00000508831.1:p.Cys841Arg
ENST00000690917.1:n.2748T>C
ENST00000691361.1:n.1440T>C
ENST00000692301.1:n.1222T>C
ENST00000692783.1:c.2527T>C	ENSP00000508733.1:p.Cys843Arg
ENST00000692991.1:n.2627T>C
ENST00000288135.6:c.2530T>C MANE Select	ENSP00000288135.6:p.Cys844Arg
ENST00000288135.5:c.2530T>C	ENSP00000288135.5:p.Cys844Arg
ENST00000412167.6:c.2518T>C	ENSP00000390987.2:p.Cys840Arg
NM_000222.2:c.2530T>C , LRG_307t1:c.2530T>C	NP_000213.1:p.Cys844Arg
NM_001093772.1:c.2518T>C	NP_001087241.1:p.Cys840Arg
XM_005265740.1:c.2533T>C	XP_005265797.1:p.Cys845Arg
XM_005265741.1:c.2530T>C	XP_005265798.1:p.Cys844Arg
XM_005265742.1:c.2521T>C	XP_005265799.1:p.Cys841Arg
XM_005265742.3:c.2521T>C	XP_005265799.1:p.Cys841Arg
XM_017008178.1:c.2527T>C	XP_016863667.1:p.Cys843Arg
XM_017008179.1:c.2518T>C	XP_016863668.1:p.Cys840Arg
XM_017008180.1:c.2515T>C	XP_016863669.1:p.Cys839Arg
NM_000222.3:c.2530T>C MANE Select	NP_000213.1:p.Cys844Arg
NM_001093772.2:c.2518T>C	NP_001087241.1:p.Cys840Arg
NM_001385284.1:c.2533T>C	NP_001372213.1:p.Cys845Arg
NM_001385285.1:c.2527T>C	NP_001372214.1:p.Cys843Arg
NM_001385286.1:c.2515T>C	NP_001372215.1:p.Cys839Arg
NM_001385288.1:c.2521T>C	NP_001372217.1:p.Cys841Arg
NM_001385290.1:c.2530T>C	NP_001372219.1:p.Cys844Arg
NM_001385292.1:c.2518T>C	NP_001372221.1:p.Cys840Arg