Canonical Allele Identifier: CA2670660169

Gene: KIT

Linked Data

• gnomAD v4: 4-54736437-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54736437C>A , CM000666.2:g.54736437C>A	GRCh38
NC_000004.11:g.55602603C>A , CM000666.1:g.55602603C>A	GRCh37
NC_000004.10:g.55297360C>A	NCBI36
NG_007456.1:g.83443C>A , LRG_307:g.83443C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000412167.7:c.2473-61C>A	ENSP00000390987.3:n.2473-61C>A
ENST00000684818.1:n.1116C>A
ENST00000685269.1:n.2563-61C>A
ENST00000686011.1:c.2470-61C>A	ENSP00000509704.1:n.2470-61C>A
ENST00000687109.1:c.2488-61C>A	ENSP00000509371.1:n.2488-61C>A
ENST00000687208.1:n.2897-61C>A
ENST00000687246.1:c.2350-61C>A	ENSP00000509114.1:n.2350-61C>A
ENST00000687265.1:n.2643-61C>A
ENST00000687295.1:c.2473-61C>A	ENSP00000509450.1:n.2473-61C>A
ENST00000688060.1:n.282-61C>A
ENST00000689832.1:c.2485-61C>A	ENSP00000509084.1:n.2485-61C>A
ENST00000689994.1:c.1975-61C>A	ENSP00000509156.1:n.1975-61C>A
ENST00000690543.1:c.2476-61C>A	ENSP00000508831.1:n.2476-61C>A
ENST00000690917.1:n.2703-61C>A
ENST00000691361.1:n.1395-61C>A
ENST00000692301.1:n.1116C>A
ENST00000692783.1:c.2482-61C>A	ENSP00000508733.1:n.2482-61C>A
ENST00000692991.1:n.2582-61C>A
ENST00000288135.6:c.2485-61C>A MANE Select	ENSP00000288135.6:n.2485-61C>A
ENST00000288135.5:c.2485-61C>A	ENSP00000288135.5:n.2485-61C>A
ENST00000412167.6:c.2473-61C>A	ENSP00000390987.2:n.2473-61C>A
NM_000222.2:c.2485-61C>A , LRG_307t1:c.2485-61C>A	NP_000213.1:n.2485-61C>A
NM_001093772.1:c.2473-61C>A	NP_001087241.1:n.2473-61C>A
XM_005265740.1:c.2488-61C>A	XP_005265797.1:n.2488-61C>A
XM_005265741.1:c.2485-61C>A	XP_005265798.1:n.2485-61C>A
XM_005265742.1:c.2476-61C>A	XP_005265799.1:n.2476-61C>A
XM_005265742.3:c.2476-61C>A	XP_005265799.1:n.2476-61C>A
XM_017008178.1:c.2482-61C>A	XP_016863667.1:n.2482-61C>A
XM_017008179.1:c.2473-61C>A	XP_016863668.1:n.2473-61C>A
XM_017008180.1:c.2470-61C>A	XP_016863669.1:n.2470-61C>A
NM_000222.3:c.2485-61C>A MANE Select	NP_000213.1:n.2485-61C>A
NM_001093772.2:c.2473-61C>A	NP_001087241.1:n.2473-61C>A
NM_001385284.1:c.2488-61C>A	NP_001372213.1:n.2488-61C>A
NM_001385285.1:c.2482-61C>A	NP_001372214.1:n.2482-61C>A
NM_001385286.1:c.2470-61C>A	NP_001372215.1:n.2470-61C>A
NM_001385288.1:c.2476-61C>A	NP_001372217.1:n.2476-61C>A
NM_001385290.1:c.2485-61C>A	NP_001372219.1:n.2485-61C>A
NM_001385292.1:c.2473-61C>A	NP_001372221.1:n.2473-61C>A