Canonical Allele Identifier: CA11723867

Gene: KIT

Linked Data

• ClinVar Variation Id: 1275899
• ClinVar RCV Id: RCV001694224
• dbSNP Id: rs1124007
• gnomAD v2: 4-55599656-A-G
• gnomAD v3: 4-54733490-A-G
• gnomAD v4: 4-54733490-A-G
• MyVariant Identifiers: chr4:g.55599656A>G (hg19) ; chr4:g.54733490A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733490A>G , CM000666.2:g.54733490A>G	GRCh38
NC_000004.11:g.55599656A>G , CM000666.1:g.55599656A>G	GRCh37
NC_000004.10:g.55294413A>G	NCBI36
NG_007456.1:g.80496A>G , LRG_307:g.80496A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2472+298A>G	ENSP00000390987.3:n.2472+298A>G
ENST00000685269.1:n.2562+298A>G
ENST00000686011.1:c.2469+298A>G	ENSP00000509704.1:n.2469+298A>G
ENST00000687109.1:c.2487+298A>G	ENSP00000509371.1:n.2487+298A>G
ENST00000687208.1:n.2896+298A>G
ENST00000687246.1:c.2349+1492A>G	ENSP00000509114.1:n.2349+1492A>G
ENST00000687265.1:n.2642+298A>G
ENST00000687295.1:c.2472+298A>G	ENSP00000509450.1:n.2472+298A>G
ENST00000688060.1:n.281+298A>G
ENST00000688704.1:n.1794A>G
ENST00000689832.1:c.2484+298A>G	ENSP00000509084.1:n.2484+298A>G
ENST00000689994.1:c.1974+298A>G	ENSP00000509156.1:n.1974+298A>G
ENST00000690543.1:c.2475+298A>G	ENSP00000508831.1:n.2475+298A>G
ENST00000690917.1:n.2702+298A>G
ENST00000691361.1:n.1394+298A>G
ENST00000692783.1:c.2481+298A>G	ENSP00000508733.1:n.2481+298A>G
ENST00000692991.1:n.2581+298A>G
ENST00000288135.6:c.2484+298A>G MANE Select	ENSP00000288135.6:n.2484+298A>G
ENST00000288135.5:c.2484+298A>G	ENSP00000288135.5:n.2484+298A>G
ENST00000412167.6:c.2472+298A>G	ENSP00000390987.2:n.2472+298A>G
NM_000222.2:c.2484+298A>G , LRG_307t1:c.2484+298A>G	NP_000213.1:n.2484+298A>G
NM_001093772.1:c.2472+298A>G	NP_001087241.1:n.2472+298A>G
XM_005265740.1:c.2487+298A>G	XP_005265797.1:n.2487+298A>G
XM_005265741.1:c.2484+298A>G	XP_005265798.1:n.2484+298A>G
XM_005265742.1:c.2475+298A>G	XP_005265799.1:n.2475+298A>G
XM_005265742.3:c.2475+298A>G	XP_005265799.1:n.2475+298A>G
XM_017008178.1:c.2481+298A>G	XP_016863667.1:n.2481+298A>G
XM_017008179.1:c.2472+298A>G	XP_016863668.1:n.2472+298A>G
XM_017008180.1:c.2469+298A>G	XP_016863669.1:n.2469+298A>G
NM_000222.3:c.2484+298A>G MANE Select	NP_000213.1:n.2484+298A>G
NM_001093772.2:c.2472+298A>G	NP_001087241.1:n.2472+298A>G
NM_001385284.1:c.2487+298A>G	NP_001372213.1:n.2487+298A>G
NM_001385285.1:c.2481+298A>G	NP_001372214.1:n.2481+298A>G
NM_001385286.1:c.2469+298A>G	NP_001372215.1:n.2469+298A>G
NM_001385288.1:c.2475+298A>G	NP_001372217.1:n.2475+298A>G
NM_001385290.1:c.2484+298A>G	NP_001372219.1:n.2484+298A>G
NM_001385292.1:c.2472+298A>G	NP_001372221.1:n.2472+298A>G