Canonical Allele Identifier: CA356911963

Gene: KIT

Linked Data

• ClinVar Variation Id: 1009776
• ClinVar RCV Id: RCV001307308
• dbSNP Id: rs1722713882
• MyVariant Identifiers: chr4:g.55599336C>G (hg19) ; chr4:g.54733170C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733170C>G , CM000666.2:g.54733170C>G	GRCh38
NC_000004.11:g.55599336C>G , CM000666.1:g.55599336C>G	GRCh37
NC_000004.10:g.55294093C>G	NCBI36
NG_007456.1:g.80176C>G , LRG_307:g.80176C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000412167.7:c.2450C>G	ENSP00000390987.3:p.Ser817Cys
ENST00000685269.1:n.2540C>G
ENST00000686011.1:c.2447C>G	ENSP00000509704.1:p.Ser816Cys
ENST00000687109.1:c.2465C>G	ENSP00000509371.1:p.Ser822Cys
ENST00000687208.1:n.2874C>G
ENST00000687246.1:c.2349+1172C>G	ENSP00000509114.1:n.2349+1172C>G
ENST00000687265.1:n.2620C>G
ENST00000687295.1:c.2450C>G	ENSP00000509450.1:p.Ser817Cys
ENST00000688060.1:n.259C>G
ENST00000688704.1:n.1474C>G
ENST00000689832.1:c.2462C>G	ENSP00000509084.1:p.Ser821Cys
ENST00000689994.1:c.1952C>G	ENSP00000509156.1:p.Ser651Cys
ENST00000690543.1:c.2453C>G	ENSP00000508831.1:p.Ser818Cys
ENST00000690917.1:n.2680C>G
ENST00000691361.1:n.1372C>G
ENST00000692783.1:c.2459C>G	ENSP00000508733.1:p.Ser820Cys
ENST00000692991.1:n.2559C>G
ENST00000288135.6:c.2462C>G MANE Select	ENSP00000288135.6:p.Ser821Cys
ENST00000288135.5:c.2462C>G	ENSP00000288135.5:p.Ser821Cys
ENST00000412167.6:c.2450C>G	ENSP00000390987.2:p.Ser817Cys
ENST00000512959.1:n.515C>G
NM_000222.2:c.2462C>G , LRG_307t1:c.2462C>G	NP_000213.1:p.Ser821Cys
NM_001093772.1:c.2450C>G	NP_001087241.1:p.Ser817Cys
XM_005265740.1:c.2465C>G	XP_005265797.1:p.Ser822Cys
XM_005265741.1:c.2462C>G	XP_005265798.1:p.Ser821Cys
XM_005265742.1:c.2453C>G	XP_005265799.1:p.Ser818Cys
XM_005265742.3:c.2453C>G	XP_005265799.1:p.Ser818Cys
XM_017008178.1:c.2459C>G	XP_016863667.1:p.Ser820Cys
XM_017008179.1:c.2450C>G	XP_016863668.1:p.Ser817Cys
XM_017008180.1:c.2447C>G	XP_016863669.1:p.Ser816Cys
NM_000222.3:c.2462C>G MANE Select	NP_000213.1:p.Ser821Cys
NM_001093772.2:c.2450C>G	NP_001087241.1:p.Ser817Cys
NM_001385284.1:c.2465C>G	NP_001372213.1:p.Ser822Cys
NM_001385285.1:c.2459C>G	NP_001372214.1:p.Ser820Cys
NM_001385286.1:c.2447C>G	NP_001372215.1:p.Ser816Cys
NM_001385288.1:c.2453C>G	NP_001372217.1:p.Ser818Cys
NM_001385290.1:c.2462C>G	NP_001372219.1:p.Ser821Cys
NM_001385292.1:c.2450C>G	NP_001372221.1:p.Ser817Cys