Canonical Allele Identifier: CA356913260

Gene: KIT

Linked Data

• ClinVar Variation Id: 2013291
• ClinVar RCV Id: RCV002834564
• dbSNP Id: rs555650901
• MyVariant Identifiers: chr4:g.55602733G>C (hg19) ; chr4:g.54736567G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54736567G>C , CM000666.2:g.54736567G>C	GRCh38
NC_000004.11:g.55602733G>C , CM000666.1:g.55602733G>C	GRCh37
NC_000004.10:g.55297490G>C	NCBI36
NG_007456.1:g.83573G>C , LRG_307:g.83573G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2542G>C	ENSP00000390987.3:p.Val848Leu
ENST00000684818.1:n.1246G>C
ENST00000685269.1:n.2632G>C
ENST00000686011.1:c.2539G>C	ENSP00000509704.1:p.Val847Leu
ENST00000687109.1:c.2557G>C	ENSP00000509371.1:p.Val853Leu
ENST00000687208.1:n.2966G>C
ENST00000687246.1:c.2419G>C	ENSP00000509114.1:p.Val807Leu
ENST00000687265.1:n.2712G>C
ENST00000687295.1:c.2542G>C	ENSP00000509450.1:p.Val848Leu
ENST00000688060.1:n.351G>C
ENST00000689832.1:c.2554G>C	ENSP00000509084.1:p.Val852Leu
ENST00000689994.1:c.2044G>C	ENSP00000509156.1:p.Val682Leu
ENST00000690543.1:c.2545G>C	ENSP00000508831.1:p.Val849Leu
ENST00000690917.1:n.2772G>C
ENST00000691361.1:n.1464G>C
ENST00000692301.1:n.1246G>C
ENST00000692783.1:c.2551G>C	ENSP00000508733.1:p.Val851Leu
ENST00000692991.1:n.2651G>C
ENST00000288135.6:c.2554G>C MANE Select	ENSP00000288135.6:p.Val852Leu
ENST00000288135.5:c.2554G>C	ENSP00000288135.5:p.Val852Leu
ENST00000412167.6:c.2542G>C	ENSP00000390987.2:p.Val848Leu
NM_000222.2:c.2554G>C , LRG_307t1:c.2554G>C	NP_000213.1:p.Val852Leu
NM_001093772.1:c.2542G>C	NP_001087241.1:p.Val848Leu
XM_005265740.1:c.2557G>C	XP_005265797.1:p.Val853Leu
XM_005265741.1:c.2554G>C	XP_005265798.1:p.Val852Leu
XM_005265742.1:c.2545G>C	XP_005265799.1:p.Val849Leu
XM_005265742.3:c.2545G>C	XP_005265799.1:p.Val849Leu
XM_017008178.1:c.2551G>C	XP_016863667.1:p.Val851Leu
XM_017008179.1:c.2542G>C	XP_016863668.1:p.Val848Leu
XM_017008180.1:c.2539G>C	XP_016863669.1:p.Val847Leu
NM_000222.3:c.2554G>C MANE Select	NP_000213.1:p.Val852Leu
NM_001093772.2:c.2542G>C	NP_001087241.1:p.Val848Leu
NM_001385284.1:c.2557G>C	NP_001372213.1:p.Val853Leu
NM_001385285.1:c.2551G>C	NP_001372214.1:p.Val851Leu
NM_001385286.1:c.2539G>C	NP_001372215.1:p.Val847Leu
NM_001385288.1:c.2545G>C	NP_001372217.1:p.Val849Leu
NM_001385290.1:c.2554G>C	NP_001372219.1:p.Val852Leu
NM_001385292.1:c.2542G>C	NP_001372221.1:p.Val848Leu