Canonical Allele Identifier: CA2923544

Gene: KIT

Linked Data

• ClinVar Variation Id: 2903913
• ClinVar RCV Id: RCV003639094
• dbSNP Id: rs745398131
• ExAC: 4:55593506 T / C
• gnomAD v2: 4-55593506-T-C
• gnomAD v3: 4-54727340-T-C
• gnomAD v4: 4-54727340-T-C
• MyVariant Identifiers: chr4:g.55593506T>C (hg19) ; chr4:g.54727340T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727340T>C , CM000666.2:g.54727340T>C	GRCh38
NC_000004.11:g.55593506T>C , CM000666.1:g.55593506T>C	GRCh37
NC_000004.10:g.55288263T>C	NCBI36
NG_007456.1:g.74346T>C , LRG_307:g.74346T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1638+16T>C	ENSP00000390987.3:n.1638+16T>C
ENST00000685269.1:n.1725+16T>C
ENST00000686011.1:c.1635+16T>C	ENSP00000509704.1:n.1635+16T>C
ENST00000687109.1:c.1650+16T>C	ENSP00000509371.1:n.1650+16T>C
ENST00000687208.1:n.2062+16T>C
ENST00000687246.1:c.1635+16T>C	ENSP00000509114.1:n.1635+16T>C
ENST00000687265.1:n.1805+16T>C
ENST00000687295.1:c.1635+16T>C	ENSP00000509450.1:n.1635+16T>C
ENST00000689832.1:c.1650+16T>C	ENSP00000509084.1:n.1650+16T>C
ENST00000689994.1:c.1137+16T>C	ENSP00000509156.1:n.1137+16T>C
ENST00000690543.1:c.1638+16T>C	ENSP00000508831.1:n.1638+16T>C
ENST00000690917.1:n.1865+16T>C
ENST00000691361.1:n.557+16T>C
ENST00000692783.1:c.1647+16T>C	ENSP00000508733.1:n.1647+16T>C
ENST00000692991.1:n.1744+16T>C
ENST00000288135.6:c.1647+16T>C MANE Select	ENSP00000288135.6:n.1647+16T>C
ENST00000288135.5:c.1647+16T>C	ENSP00000288135.5:n.1647+16T>C
ENST00000412167.6:c.1635+16T>C	ENSP00000390987.2:n.1635+16T>C
NM_000222.2:c.1647+16T>C , LRG_307t1:c.1647+16T>C	NP_000213.1:n.1647+16T>C
NM_001093772.1:c.1635+16T>C	NP_001087241.1:n.1635+16T>C
XM_005265740.1:c.1650+16T>C	XP_005265797.1:n.1650+16T>C
XM_005265741.1:c.1650+16T>C	XP_005265798.1:n.1650+16T>C
XM_005265742.1:c.1638+16T>C	XP_005265799.1:n.1638+16T>C
XM_005265742.3:c.1638+16T>C	XP_005265799.1:n.1638+16T>C
XM_017008178.1:c.1647+16T>C	XP_016863667.1:n.1647+16T>C
XM_017008179.1:c.1638+16T>C	XP_016863668.1:n.1638+16T>C
XM_017008180.1:c.1635+16T>C	XP_016863669.1:n.1635+16T>C
NM_000222.3:c.1647+16T>C MANE Select	NP_000213.1:n.1647+16T>C
NM_001093772.2:c.1635+16T>C	NP_001087241.1:n.1635+16T>C
NM_001385284.1:c.1650+16T>C	NP_001372213.1:n.1650+16T>C
NM_001385285.1:c.1647+16T>C	NP_001372214.1:n.1647+16T>C
NM_001385286.1:c.1635+16T>C	NP_001372215.1:n.1635+16T>C
NM_001385288.1:c.1638+16T>C	NP_001372217.1:n.1638+16T>C
NM_001385290.1:c.1650+16T>C	NP_001372219.1:n.1650+16T>C
NM_001385292.1:c.1638+16T>C	NP_001372221.1:n.1638+16T>C