Canonical Allele Identifier: CA439292070

Gene: KIT

Linked Data

• ClinVar Variation Id: 1585015
• ClinVar RCV Id: RCV002103010 ; RCV003382837
• dbSNP Id: rs2109811448
• MyVariant Identifiers: chr4:g.55602735C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54736569C>G , CM000666.2:g.54736569C>G	GRCh38
NC_000004.11:g.55602735C>G , CM000666.1:g.55602735C>G	GRCh37
NC_000004.10:g.55297492C>G	NCBI36
NG_007456.1:g.83575C>G , LRG_307:g.83575C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2544C>G	ENSP00000390987.3:p.Val848=
ENST00000684818.1:n.1248C>G
ENST00000685269.1:n.2634C>G
ENST00000686011.1:c.2541C>G	ENSP00000509704.1:p.Val847=
ENST00000687109.1:c.2559C>G	ENSP00000509371.1:p.Val853=
ENST00000687208.1:n.2968C>G
ENST00000687246.1:c.2421C>G	ENSP00000509114.1:p.Val807=
ENST00000687265.1:n.2714C>G
ENST00000687295.1:c.2544C>G	ENSP00000509450.1:p.Val848=
ENST00000688060.1:n.353C>G
ENST00000689832.1:c.2556C>G	ENSP00000509084.1:p.Val852=
ENST00000689994.1:c.2046C>G	ENSP00000509156.1:p.Val682=
ENST00000690543.1:c.2547C>G	ENSP00000508831.1:p.Val849=
ENST00000690917.1:n.2774C>G
ENST00000691361.1:n.1466C>G
ENST00000692301.1:n.1248C>G
ENST00000692783.1:c.2553C>G	ENSP00000508733.1:p.Val851=
ENST00000692991.1:n.2653C>G
ENST00000288135.6:c.2556C>G MANE Select	ENSP00000288135.6:p.Val852=
ENST00000288135.5:c.2556C>G	ENSP00000288135.5:p.Val852=
ENST00000412167.6:c.2544C>G	ENSP00000390987.2:p.Val848=
NM_000222.2:c.2556C>G , LRG_307t1:c.2556C>G	NP_000213.1:p.Val852=
NM_001093772.1:c.2544C>G	NP_001087241.1:p.Val848=
XM_005265740.1:c.2559C>G	XP_005265797.1:p.Val853=
XM_005265741.1:c.2556C>G	XP_005265798.1:p.Val852=
XM_005265742.1:c.2547C>G	XP_005265799.1:p.Val849=
XM_005265742.3:c.2547C>G	XP_005265799.1:p.Val849=
XM_017008178.1:c.2553C>G	XP_016863667.1:p.Val851=
XM_017008179.1:c.2544C>G	XP_016863668.1:p.Val848=
XM_017008180.1:c.2541C>G	XP_016863669.1:p.Val847=
NM_000222.3:c.2556C>G MANE Select	NP_000213.1:p.Val852=
NM_001093772.2:c.2544C>G	NP_001087241.1:p.Val848=
NM_001385284.1:c.2559C>G	NP_001372213.1:p.Val853=
NM_001385285.1:c.2553C>G	NP_001372214.1:p.Val851=
NM_001385286.1:c.2541C>G	NP_001372215.1:p.Val847=
NM_001385288.1:c.2547C>G	NP_001372217.1:p.Val849=
NM_001385290.1:c.2556C>G	NP_001372219.1:p.Val852=
NM_001385292.1:c.2544C>G	NP_001372221.1:p.Val848=