Canonical Allele Identifier: CA123537
Gene: KIT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13862
dbSNP Id: rs121913509
COSMIC: COSM1324

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54736528G>A , CM000666.2:g.54736528G>A GRCh38
NC_000004.10:g.55297451G>A NCBI36
NC_000004.11:g.55602694G>A , CM000666.1:g.55602694G>A GRCh37
NG_007456.1:g.83534G>A , LRG_307:g.83534G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000288135.5:c.2515G>A ENSP00000288135.5:p.Glu839Lys
ENST00000412167.6:c.2503G>A ENSP00000390987.2:p.Glu835Lys
NM_000222.2:c.2515G>A , LRG_307t1:c.2515G>A NP_000213.1:p.Glu839Lys
NM_001093772.1:c.2503G>A NP_001087241.1:p.Glu835Lys
XM_005265740.1:c.2518G>A XP_005265797.1:p.Glu840Lys
XM_005265741.1:c.2515G>A XP_005265798.1:p.Glu839Lys
XM_005265742.1:c.2506G>A XP_005265799.1:p.Glu836Lys