Canonical Allele Identifier: CA356913104

Gene: KIT

Linked Data

• dbSNP Id: rs1560424620
• COSMIC: COSM6437976
• MyVariant Identifiers: chr4:g.55602707A>T (hg19) ; chr4:g.54736541A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54736541A>T , CM000666.2:g.54736541A>T	GRCh38
NC_000004.11:g.55602707A>T , CM000666.1:g.55602707A>T	GRCh37
NC_000004.10:g.55297464A>T	NCBI36
NG_007456.1:g.83547A>T , LRG_307:g.83547A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000412167.7:c.2516A>T	ENSP00000390987.3:p.Asn839Ile
ENST00000684818.1:n.1220A>T
ENST00000685269.1:n.2606A>T
ENST00000686011.1:c.2513A>T	ENSP00000509704.1:p.Asn838Ile
ENST00000687109.1:c.2531A>T	ENSP00000509371.1:p.Asn844Ile
ENST00000687208.1:n.2940A>T
ENST00000687246.1:c.2393A>T	ENSP00000509114.1:p.Asn798Ile
ENST00000687265.1:n.2686A>T
ENST00000687295.1:c.2516A>T	ENSP00000509450.1:p.Asn839Ile
ENST00000688060.1:n.325A>T
ENST00000689832.1:c.2528A>T	ENSP00000509084.1:p.Asn843Ile
ENST00000689994.1:c.2018A>T	ENSP00000509156.1:p.Asn673Ile
ENST00000690543.1:c.2519A>T	ENSP00000508831.1:p.Asn840Ile
ENST00000690917.1:n.2746A>T
ENST00000691361.1:n.1438A>T
ENST00000692301.1:n.1220A>T
ENST00000692783.1:c.2525A>T	ENSP00000508733.1:p.Asn842Ile
ENST00000692991.1:n.2625A>T
ENST00000288135.6:c.2528A>T MANE Select	ENSP00000288135.6:p.Asn843Ile
ENST00000288135.5:c.2528A>T	ENSP00000288135.5:p.Asn843Ile
ENST00000412167.6:c.2516A>T	ENSP00000390987.2:p.Asn839Ile
NM_000222.2:c.2528A>T , LRG_307t1:c.2528A>T	NP_000213.1:p.Asn843Ile
NM_001093772.1:c.2516A>T	NP_001087241.1:p.Asn839Ile
XM_005265740.1:c.2531A>T	XP_005265797.1:p.Asn844Ile
XM_005265741.1:c.2528A>T	XP_005265798.1:p.Asn843Ile
XM_005265742.1:c.2519A>T	XP_005265799.1:p.Asn840Ile
XM_005265742.3:c.2519A>T	XP_005265799.1:p.Asn840Ile
XM_017008178.1:c.2525A>T	XP_016863667.1:p.Asn842Ile
XM_017008179.1:c.2516A>T	XP_016863668.1:p.Asn839Ile
XM_017008180.1:c.2513A>T	XP_016863669.1:p.Asn838Ile
NM_000222.3:c.2528A>T MANE Select	NP_000213.1:p.Asn843Ile
NM_001093772.2:c.2516A>T	NP_001087241.1:p.Asn839Ile
NM_001385284.1:c.2531A>T	NP_001372213.1:p.Asn844Ile
NM_001385285.1:c.2525A>T	NP_001372214.1:p.Asn842Ile
NM_001385286.1:c.2513A>T	NP_001372215.1:p.Asn838Ile
NM_001385288.1:c.2519A>T	NP_001372217.1:p.Asn840Ile
NM_001385290.1:c.2528A>T	NP_001372219.1:p.Asn843Ile
NM_001385292.1:c.2516A>T	NP_001372221.1:p.Asn839Ile