Canonical Allele Identifier: CA356908663
Gene: KIT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54728069C>A , CM000666.2:g.54728069C>A GRCh38
NC_000004.11:g.55594235C>A , CM000666.1:g.55594235C>A GRCh37
NC_000004.10:g.55288992C>A NCBI36
NG_007456.1:g.75075C>A , LRG_307:g.75075C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1929C>A ENSP00000390987.3:p.Tyr643Ter
ENST00000685269.1:n.2016C>A
ENST00000686011.1:c.1926C>A ENSP00000509704.1:p.Tyr642Ter
ENST00000687109.1:c.1941C>A ENSP00000509371.1:p.Tyr647Ter
ENST00000687208.1:n.2353C>A
ENST00000687246.1:c.1926C>A ENSP00000509114.1:p.Tyr642Ter
ENST00000687265.1:n.2096C>A
ENST00000687295.1:c.1926C>A ENSP00000509450.1:p.Tyr642Ter
ENST00000689832.1:c.1941C>A ENSP00000509084.1:p.Tyr647Ter
ENST00000689994.1:c.1428C>A ENSP00000509156.1:p.Tyr476Ter
ENST00000690543.1:c.1929C>A ENSP00000508831.1:p.Tyr643Ter
ENST00000690917.1:n.2156C>A
ENST00000691361.1:n.848C>A
ENST00000692783.1:c.1938C>A ENSP00000508733.1:p.Tyr646Ter
ENST00000692991.1:n.2035C>A
ENST00000288135.6:c.1938C>A MANE Select ENSP00000288135.6:p.Tyr646Ter
ENST00000288135.5:c.1938C>A ENSP00000288135.5:p.Tyr646Ter
ENST00000412167.6:c.1926C>A ENSP00000390987.2:p.Tyr642Ter
NM_000222.2:c.1938C>A , LRG_307t1:c.1938C>A NP_000213.1:p.Tyr646Ter
NM_001093772.1:c.1926C>A NP_001087241.1:p.Tyr642Ter
XM_005265740.1:c.1941C>A XP_005265797.1:p.Tyr647Ter
XM_005265741.1:c.1941C>A XP_005265798.1:p.Tyr647Ter
XM_005265742.1:c.1929C>A XP_005265799.1:p.Tyr643Ter
XM_005265742.3:c.1929C>A XP_005265799.1:p.Tyr643Ter
XM_017008178.1:c.1938C>A XP_016863667.1:p.Tyr646Ter
XM_017008179.1:c.1929C>A XP_016863668.1:p.Tyr643Ter
XM_017008180.1:c.1926C>A XP_016863669.1:p.Tyr642Ter
NM_000222.3:c.1938C>A MANE Select NP_000213.1:p.Tyr646Ter
NM_001093772.2:c.1926C>A NP_001087241.1:p.Tyr642Ter
NM_001385284.1:c.1941C>A NP_001372213.1:p.Tyr647Ter
NM_001385285.1:c.1938C>A NP_001372214.1:p.Tyr646Ter
NM_001385286.1:c.1926C>A NP_001372215.1:p.Tyr642Ter
NM_001385288.1:c.1929C>A NP_001372217.1:p.Tyr643Ter
NM_001385290.1:c.1941C>A NP_001372219.1:p.Tyr647Ter
NM_001385292.1:c.1929C>A NP_001372221.1:p.Tyr643Ter