Canonical Allele Identifier: CA439292060
Gene: KIT HGNC NCBI

Linked Data

dbSNP Id: rs762912889
MyVariant Identifiers: chr4:g.55602720G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54736554G>C , CM000666.2:g.54736554G>C GRCh38
NC_000004.11:g.55602720G>C , CM000666.1:g.55602720G>C GRCh37
NC_000004.10:g.55297477G>C NCBI36
NG_007456.1:g.83560G>C , LRG_307:g.83560G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.2529G>C ENSP00000390987.3:p.Thr843=
ENST00000684818.1:n.1233G>C
ENST00000685269.1:n.2619G>C
ENST00000686011.1:c.2526G>C ENSP00000509704.1:p.Thr842=
ENST00000687109.1:c.2544G>C ENSP00000509371.1:p.Thr848=
ENST00000687208.1:n.2953G>C
ENST00000687246.1:c.2406G>C ENSP00000509114.1:p.Thr802=
ENST00000687265.1:n.2699G>C
ENST00000687295.1:c.2529G>C ENSP00000509450.1:p.Thr843=
ENST00000688060.1:n.338G>C
ENST00000689832.1:c.2541G>C ENSP00000509084.1:p.Thr847=
ENST00000689994.1:c.2031G>C ENSP00000509156.1:p.Thr677=
ENST00000690543.1:c.2532G>C ENSP00000508831.1:p.Thr844=
ENST00000690917.1:n.2759G>C
ENST00000691361.1:n.1451G>C
ENST00000692301.1:n.1233G>C
ENST00000692783.1:c.2538G>C ENSP00000508733.1:p.Thr846=
ENST00000692991.1:n.2638G>C
ENST00000288135.6:c.2541G>C MANE Select ENSP00000288135.6:p.Thr847=
ENST00000288135.5:c.2541G>C ENSP00000288135.5:p.Thr847=
ENST00000412167.6:c.2529G>C ENSP00000390987.2:p.Thr843=
NM_000222.2:c.2541G>C , LRG_307t1:c.2541G>C NP_000213.1:p.Thr847=
NM_001093772.1:c.2529G>C NP_001087241.1:p.Thr843=
XM_005265740.1:c.2544G>C XP_005265797.1:p.Thr848=
XM_005265741.1:c.2541G>C XP_005265798.1:p.Thr847=
XM_005265742.1:c.2532G>C XP_005265799.1:p.Thr844=
XM_005265742.3:c.2532G>C XP_005265799.1:p.Thr844=
XM_017008178.1:c.2538G>C XP_016863667.1:p.Thr846=
XM_017008179.1:c.2529G>C XP_016863668.1:p.Thr843=
XM_017008180.1:c.2526G>C XP_016863669.1:p.Thr842=
NM_000222.3:c.2541G>C MANE Select NP_000213.1:p.Thr847=
NM_001093772.2:c.2529G>C NP_001087241.1:p.Thr843=
NM_001385284.1:c.2544G>C NP_001372213.1:p.Thr848=
NM_001385285.1:c.2538G>C NP_001372214.1:p.Thr846=
NM_001385286.1:c.2526G>C NP_001372215.1:p.Thr842=
NM_001385288.1:c.2532G>C NP_001372217.1:p.Thr844=
NM_001385290.1:c.2541G>C NP_001372219.1:p.Thr847=
NM_001385292.1:c.2529G>C NP_001372221.1:p.Thr843=