Canonical Allele Identifier: CA2705791770
Gene: KIT HGNC NCBI

Linked Data

dbSNP Id: rs779884073

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727948G>A , CM000666.2:g.54727948G>A GRCh38
NC_000004.11:g.55594114G>A , CM000666.1:g.55594114G>A GRCh37
NC_000004.10:g.55288871G>A NCBI36
NG_007456.1:g.74954G>A , LRG_307:g.74954G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1870+21G>A ENSP00000390987.3:n.1870+21G>A
ENST00000685269.1:n.1957+21G>A
ENST00000686011.1:c.1867+21G>A ENSP00000509704.1:n.1867+21G>A
ENST00000687109.1:c.1882+21G>A ENSP00000509371.1:n.1882+21G>A
ENST00000687208.1:n.2294+21G>A
ENST00000687246.1:c.1867+21G>A ENSP00000509114.1:n.1867+21G>A
ENST00000687265.1:n.2037+21G>A
ENST00000687295.1:c.1867+21G>A ENSP00000509450.1:n.1867+21G>A
ENST00000689832.1:c.1882+21G>A ENSP00000509084.1:n.1882+21G>A
ENST00000689994.1:c.1369+21G>A ENSP00000509156.1:n.1369+21G>A
ENST00000690543.1:c.1870+21G>A ENSP00000508831.1:n.1870+21G>A
ENST00000690917.1:n.2097+21G>A
ENST00000691361.1:n.789+21G>A
ENST00000692783.1:c.1879+21G>A ENSP00000508733.1:n.1879+21G>A
ENST00000692991.1:n.1976+21G>A
ENST00000288135.6:c.1879+21G>A MANE Select ENSP00000288135.6:n.1879+21G>A
ENST00000288135.5:c.1879+21G>A ENSP00000288135.5:n.1879+21G>A
ENST00000412167.6:c.1867+21G>A ENSP00000390987.2:n.1867+21G>A
NM_000222.2:c.1879+21G>A , LRG_307t1:c.1879+21G>A NP_000213.1:n.1879+21G>A
NM_001093772.1:c.1867+21G>A NP_001087241.1:n.1867+21G>A
XM_005265740.1:c.1882+21G>A XP_005265797.1:n.1882+21G>A
XM_005265741.1:c.1882+21G>A XP_005265798.1:n.1882+21G>A
XM_005265742.1:c.1870+21G>A XP_005265799.1:n.1870+21G>A
XM_005265742.3:c.1870+21G>A XP_005265799.1:n.1870+21G>A
XM_017008178.1:c.1879+21G>A XP_016863667.1:n.1879+21G>A
XM_017008179.1:c.1870+21G>A XP_016863668.1:n.1870+21G>A
XM_017008180.1:c.1867+21G>A XP_016863669.1:n.1867+21G>A
NM_000222.3:c.1879+21G>A MANE Select NP_000213.1:n.1879+21G>A
NM_001093772.2:c.1867+21G>A NP_001087241.1:n.1867+21G>A
NM_001385284.1:c.1882+21G>A NP_001372213.1:n.1882+21G>A
NM_001385285.1:c.1879+21G>A NP_001372214.1:n.1879+21G>A
NM_001385286.1:c.1867+21G>A NP_001372215.1:n.1867+21G>A
NM_001385288.1:c.1870+21G>A NP_001372217.1:n.1870+21G>A
NM_001385290.1:c.1882+21G>A NP_001372219.1:n.1882+21G>A
NM_001385292.1:c.1870+21G>A NP_001372221.1:n.1870+21G>A