Canonical Allele Identifier: CA96882190

Gene: KIT

Linked Data

• dbSNP Id: rs995791402
• gnomAD v4: 4-54736378-G-T
• MyVariant Identifiers: chr4:g.55602544G>T (hg19) ; chr4:g.54736378G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54736378G>T , CM000666.2:g.54736378G>T	GRCh38
NC_000004.11:g.55602544G>T , CM000666.1:g.55602544G>T	GRCh37
NC_000004.10:g.55297301G>T	NCBI36
NG_007456.1:g.83384G>T , LRG_307:g.83384G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2473-120G>T	ENSP00000390987.3:n.2473-120G>T
ENST00000684818.1:n.1057G>T
ENST00000685269.1:n.2563-120G>T
ENST00000686011.1:c.2470-120G>T	ENSP00000509704.1:n.2470-120G>T
ENST00000687109.1:c.2488-120G>T	ENSP00000509371.1:n.2488-120G>T
ENST00000687208.1:n.2897-120G>T
ENST00000687246.1:c.2350-120G>T	ENSP00000509114.1:n.2350-120G>T
ENST00000687265.1:n.2643-120G>T
ENST00000687295.1:c.2473-120G>T	ENSP00000509450.1:n.2473-120G>T
ENST00000688060.1:n.282-120G>T
ENST00000689832.1:c.2485-120G>T	ENSP00000509084.1:n.2485-120G>T
ENST00000689994.1:c.1975-120G>T	ENSP00000509156.1:n.1975-120G>T
ENST00000690543.1:c.2476-120G>T	ENSP00000508831.1:n.2476-120G>T
ENST00000690917.1:n.2703-120G>T
ENST00000691361.1:n.1395-120G>T
ENST00000692301.1:n.1057G>T
ENST00000692783.1:c.2482-120G>T	ENSP00000508733.1:n.2482-120G>T
ENST00000692991.1:n.2582-120G>T
ENST00000288135.6:c.2485-120G>T MANE Select	ENSP00000288135.6:n.2485-120G>T
ENST00000288135.5:c.2485-120G>T	ENSP00000288135.5:n.2485-120G>T
ENST00000412167.6:c.2473-120G>T	ENSP00000390987.2:n.2473-120G>T
NM_000222.2:c.2485-120G>T , LRG_307t1:c.2485-120G>T	NP_000213.1:n.2485-120G>T
NM_001093772.1:c.2473-120G>T	NP_001087241.1:n.2473-120G>T
XM_005265740.1:c.2488-120G>T	XP_005265797.1:n.2488-120G>T
XM_005265741.1:c.2485-120G>T	XP_005265798.1:n.2485-120G>T
XM_005265742.1:c.2476-120G>T	XP_005265799.1:n.2476-120G>T
XM_005265742.3:c.2476-120G>T	XP_005265799.1:n.2476-120G>T
XM_017008178.1:c.2482-120G>T	XP_016863667.1:n.2482-120G>T
XM_017008179.1:c.2473-120G>T	XP_016863668.1:n.2473-120G>T
XM_017008180.1:c.2470-120G>T	XP_016863669.1:n.2470-120G>T
NM_000222.3:c.2485-120G>T MANE Select	NP_000213.1:n.2485-120G>T
NM_001093772.2:c.2473-120G>T	NP_001087241.1:n.2473-120G>T
NM_001385284.1:c.2488-120G>T	NP_001372213.1:n.2488-120G>T
NM_001385285.1:c.2482-120G>T	NP_001372214.1:n.2482-120G>T
NM_001385286.1:c.2470-120G>T	NP_001372215.1:n.2470-120G>T
NM_001385288.1:c.2476-120G>T	NP_001372217.1:n.2476-120G>T
NM_001385290.1:c.2485-120G>T	NP_001372219.1:n.2485-120G>T
NM_001385292.1:c.2473-120G>T	NP_001372221.1:n.2473-120G>T