Canonical Allele Identifier: CA439292059
Gene: KIT HGNC NCBI

Linked Data

dbSNP Id: rs2109811267
MyVariant Identifiers: chr4:g.55602717C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54736551C>T , CM000666.2:g.54736551C>T GRCh38
NC_000004.11:g.55602717C>T , CM000666.1:g.55602717C>T GRCh37
NC_000004.10:g.55297474C>T NCBI36
NG_007456.1:g.83557C>T , LRG_307:g.83557C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.2526C>T ENSP00000390987.3:p.Tyr842=
ENST00000684818.1:n.1230C>T
ENST00000685269.1:n.2616C>T
ENST00000686011.1:c.2523C>T ENSP00000509704.1:p.Tyr841=
ENST00000687109.1:c.2541C>T ENSP00000509371.1:p.Tyr847=
ENST00000687208.1:n.2950C>T
ENST00000687246.1:c.2403C>T ENSP00000509114.1:p.Tyr801=
ENST00000687265.1:n.2696C>T
ENST00000687295.1:c.2526C>T ENSP00000509450.1:p.Tyr842=
ENST00000688060.1:n.335C>T
ENST00000689832.1:c.2538C>T ENSP00000509084.1:p.Tyr846=
ENST00000689994.1:c.2028C>T ENSP00000509156.1:p.Tyr676=
ENST00000690543.1:c.2529C>T ENSP00000508831.1:p.Tyr843=
ENST00000690917.1:n.2756C>T
ENST00000691361.1:n.1448C>T
ENST00000692301.1:n.1230C>T
ENST00000692783.1:c.2535C>T ENSP00000508733.1:p.Tyr845=
ENST00000692991.1:n.2635C>T
ENST00000288135.6:c.2538C>T MANE Select ENSP00000288135.6:p.Tyr846=
ENST00000288135.5:c.2538C>T ENSP00000288135.5:p.Tyr846=
ENST00000412167.6:c.2526C>T ENSP00000390987.2:p.Tyr842=
NM_000222.2:c.2538C>T , LRG_307t1:c.2538C>T NP_000213.1:p.Tyr846=
NM_001093772.1:c.2526C>T NP_001087241.1:p.Tyr842=
XM_005265740.1:c.2541C>T XP_005265797.1:p.Tyr847=
XM_005265741.1:c.2538C>T XP_005265798.1:p.Tyr846=
XM_005265742.1:c.2529C>T XP_005265799.1:p.Tyr843=
XM_005265742.3:c.2529C>T XP_005265799.1:p.Tyr843=
XM_017008178.1:c.2535C>T XP_016863667.1:p.Tyr845=
XM_017008179.1:c.2526C>T XP_016863668.1:p.Tyr842=
XM_017008180.1:c.2523C>T XP_016863669.1:p.Tyr841=
NM_000222.3:c.2538C>T MANE Select NP_000213.1:p.Tyr846=
NM_001093772.2:c.2526C>T NP_001087241.1:p.Tyr842=
NM_001385284.1:c.2541C>T NP_001372213.1:p.Tyr847=
NM_001385285.1:c.2535C>T NP_001372214.1:p.Tyr845=
NM_001385286.1:c.2523C>T NP_001372215.1:p.Tyr841=
NM_001385288.1:c.2529C>T NP_001372217.1:p.Tyr843=
NM_001385290.1:c.2538C>T NP_001372219.1:p.Tyr846=
NM_001385292.1:c.2526C>T NP_001372221.1:p.Tyr842=