Canonical Allele Identifier: CA2923791

Gene: KIT

Linked Data

• ClinVar Variation Id: 415792
• ClinVar RCV Id: RCV001015909 ; RCV000477487
• dbSNP Id: rs751396522
• ExAC: 4:55602732 C / T
• gnomAD v2: 4-55602732-C-T
• gnomAD v3: 4-54736566-C-T
• gnomAD v4: 4-54736566-C-T
• COSMIC: COSM3301464
• MyVariant Identifiers: chr4:g.55602732C>T (hg19) ; chr4:g.54736566C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54736566C>T , CM000666.2:g.54736566C>T	GRCh38
NC_000004.11:g.55602732C>T , CM000666.1:g.55602732C>T	GRCh37
NC_000004.10:g.55297489C>T	NCBI36
NG_007456.1:g.83572C>T , LRG_307:g.83572C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2541C>T	ENSP00000390987.3:p.Asp847=
ENST00000684818.1:n.1245C>T
ENST00000685269.1:n.2631C>T
ENST00000686011.1:c.2538C>T	ENSP00000509704.1:p.Asp846=
ENST00000687109.1:c.2556C>T	ENSP00000509371.1:p.Asp852=
ENST00000687208.1:n.2965C>T
ENST00000687246.1:c.2418C>T	ENSP00000509114.1:p.Asp806=
ENST00000687265.1:n.2711C>T
ENST00000687295.1:c.2541C>T	ENSP00000509450.1:p.Asp847=
ENST00000688060.1:n.350C>T
ENST00000689832.1:c.2553C>T	ENSP00000509084.1:p.Asp851=
ENST00000689994.1:c.2043C>T	ENSP00000509156.1:p.Asp681=
ENST00000690543.1:c.2544C>T	ENSP00000508831.1:p.Asp848=
ENST00000690917.1:n.2771C>T
ENST00000691361.1:n.1463C>T
ENST00000692301.1:n.1245C>T
ENST00000692783.1:c.2550C>T	ENSP00000508733.1:p.Asp850=
ENST00000692991.1:n.2650C>T
ENST00000288135.6:c.2553C>T MANE Select	ENSP00000288135.6:p.Asp851=
ENST00000288135.5:c.2553C>T	ENSP00000288135.5:p.Asp851=
ENST00000412167.6:c.2541C>T	ENSP00000390987.2:p.Asp847=
NM_000222.2:c.2553C>T , LRG_307t1:c.2553C>T	NP_000213.1:p.Asp851=
NM_001093772.1:c.2541C>T	NP_001087241.1:p.Asp847=
XM_005265740.1:c.2556C>T	XP_005265797.1:p.Asp852=
XM_005265741.1:c.2553C>T	XP_005265798.1:p.Asp851=
XM_005265742.1:c.2544C>T	XP_005265799.1:p.Asp848=
XM_005265742.3:c.2544C>T	XP_005265799.1:p.Asp848=
XM_017008178.1:c.2550C>T	XP_016863667.1:p.Asp850=
XM_017008179.1:c.2541C>T	XP_016863668.1:p.Asp847=
XM_017008180.1:c.2538C>T	XP_016863669.1:p.Asp846=
NM_000222.3:c.2553C>T MANE Select	NP_000213.1:p.Asp851=
NM_001093772.2:c.2541C>T	NP_001087241.1:p.Asp847=
NM_001385284.1:c.2556C>T	NP_001372213.1:p.Asp852=
NM_001385285.1:c.2550C>T	NP_001372214.1:p.Asp850=
NM_001385286.1:c.2538C>T	NP_001372215.1:p.Asp846=
NM_001385288.1:c.2544C>T	NP_001372217.1:p.Asp848=
NM_001385290.1:c.2553C>T	NP_001372219.1:p.Asp851=
NM_001385292.1:c.2541C>T	NP_001372221.1:p.Asp847=