Canonical Allele Identifier: CA16602398

Gene: KIT

Linked Data

• ClinVar Variation Id: 375916
• ClinVar RCV Id: RCV000422100 ; RCV000439325
• dbSNP Id: rs121913521
• COSMIC: COSM1260
• MyVariant Identifiers: chr4:g.55593613T>G (hg19) ; chr4:g.54727447T>G (hg38)
• CIViC: CA16602398
• PubMed: PMID:16731599 ; PMID:18936790 ; PMID:19737976 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727447T>G , CM000666.2:g.54727447T>G	GRCh38
NC_000004.11:g.55593613T>G , CM000666.1:g.55593613T>G	GRCh37
NC_000004.10:g.55288370T>G	NCBI36
NG_007456.1:g.74453T>G , LRG_307:g.74453T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000412167.7:c.1670T>G	ENSP00000390987.3:p.Val557Gly
ENST00000685269.1:n.1757T>G
ENST00000686011.1:c.1667T>G	ENSP00000509704.1:p.Val556Gly
ENST00000687109.1:c.1682T>G	ENSP00000509371.1:p.Val561Gly
ENST00000687208.1:n.2094T>G
ENST00000687246.1:c.1667T>G	ENSP00000509114.1:p.Val556Gly
ENST00000687265.1:n.1837T>G
ENST00000687295.1:c.1667T>G	ENSP00000509450.1:p.Val556Gly
ENST00000689832.1:c.1682T>G	ENSP00000509084.1:p.Val561Gly
ENST00000689994.1:c.1169T>G	ENSP00000509156.1:p.Val390Gly
ENST00000690543.1:c.1670T>G	ENSP00000508831.1:p.Val557Gly
ENST00000690917.1:n.1897T>G
ENST00000691361.1:n.589T>G
ENST00000692783.1:c.1679T>G	ENSP00000508733.1:p.Val560Gly
ENST00000692991.1:n.1776T>G
ENST00000288135.6:c.1679T>G MANE Select	ENSP00000288135.6:p.Val560Gly
ENST00000288135.5:c.1679T>G	ENSP00000288135.5:p.Val560Gly
ENST00000412167.6:c.1667T>G	ENSP00000390987.2:p.Val556Gly
NM_000222.2:c.1679T>G , LRG_307t1:c.1679T>G	NP_000213.1:p.Val560Gly
NM_001093772.1:c.1667T>G	NP_001087241.1:p.Val556Gly
XM_005265740.1:c.1682T>G	XP_005265797.1:p.Val561Gly
XM_005265741.1:c.1682T>G	XP_005265798.1:p.Val561Gly
XM_005265742.1:c.1670T>G	XP_005265799.1:p.Val557Gly
XM_005265742.3:c.1670T>G	XP_005265799.1:p.Val557Gly
XM_017008178.1:c.1679T>G	XP_016863667.1:p.Val560Gly
XM_017008179.1:c.1670T>G	XP_016863668.1:p.Val557Gly
XM_017008180.1:c.1667T>G	XP_016863669.1:p.Val556Gly
NM_000222.3:c.1679T>G MANE Select	NP_000213.1:p.Val560Gly
NM_001093772.2:c.1667T>G	NP_001087241.1:p.Val556Gly
NM_001385284.1:c.1682T>G	NP_001372213.1:p.Val561Gly
NM_001385285.1:c.1679T>G	NP_001372214.1:p.Val560Gly
NM_001385286.1:c.1667T>G	NP_001372215.1:p.Val556Gly
NM_001385288.1:c.1670T>G	NP_001372217.1:p.Val557Gly
NM_001385290.1:c.1682T>G	NP_001372219.1:p.Val561Gly
NM_001385292.1:c.1670T>G	NP_001372221.1:p.Val557Gly