Canonical Allele Identifier: CA439291318

Gene: KIT

Linked Data

• ClinVar Variation Id: 1117509
• ClinVar RCV Id: RCV001446290
• dbSNP Id: rs2109779315
• MyVariant Identifiers: chr4:g.55593999G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727833G>A , CM000666.2:g.54727833G>A	GRCh38
NC_000004.11:g.55593999G>A , CM000666.1:g.55593999G>A	GRCh37
NC_000004.10:g.55288756G>A	NCBI36
NG_007456.1:g.74839G>A , LRG_307:g.74839G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1776G>A	ENSP00000390987.3:p.Leu592=
ENST00000685269.1:n.1863G>A
ENST00000686011.1:c.1773G>A	ENSP00000509704.1:p.Leu591=
ENST00000687109.1:c.1788G>A	ENSP00000509371.1:p.Leu596=
ENST00000687208.1:n.2200G>A
ENST00000687246.1:c.1773G>A	ENSP00000509114.1:p.Leu591=
ENST00000687265.1:n.1943G>A
ENST00000687295.1:c.1773G>A	ENSP00000509450.1:p.Leu591=
ENST00000689832.1:c.1788G>A	ENSP00000509084.1:p.Leu596=
ENST00000689994.1:c.1275G>A	ENSP00000509156.1:p.Leu425=
ENST00000690543.1:c.1776G>A	ENSP00000508831.1:p.Leu592=
ENST00000690917.1:n.2003G>A
ENST00000691361.1:n.695G>A
ENST00000692783.1:c.1785G>A	ENSP00000508733.1:p.Leu595=
ENST00000692991.1:n.1882G>A
ENST00000288135.6:c.1785G>A MANE Select	ENSP00000288135.6:p.Leu595=
ENST00000288135.5:c.1785G>A	ENSP00000288135.5:p.Leu595=
ENST00000412167.6:c.1773G>A	ENSP00000390987.2:p.Leu591=
NM_000222.2:c.1785G>A , LRG_307t1:c.1785G>A	NP_000213.1:p.Leu595=
NM_001093772.1:c.1773G>A	NP_001087241.1:p.Leu591=
XM_005265740.1:c.1788G>A	XP_005265797.1:p.Leu596=
XM_005265741.1:c.1788G>A	XP_005265798.1:p.Leu596=
XM_005265742.1:c.1776G>A	XP_005265799.1:p.Leu592=
XM_005265742.3:c.1776G>A	XP_005265799.1:p.Leu592=
XM_017008178.1:c.1785G>A	XP_016863667.1:p.Leu595=
XM_017008179.1:c.1776G>A	XP_016863668.1:p.Leu592=
XM_017008180.1:c.1773G>A	XP_016863669.1:p.Leu591=
NM_000222.3:c.1785G>A MANE Select	NP_000213.1:p.Leu595=
NM_001093772.2:c.1773G>A	NP_001087241.1:p.Leu591=
NM_001385284.1:c.1788G>A	NP_001372213.1:p.Leu596=
NM_001385285.1:c.1785G>A	NP_001372214.1:p.Leu595=
NM_001385286.1:c.1773G>A	NP_001372215.1:p.Leu591=
NM_001385288.1:c.1776G>A	NP_001372217.1:p.Leu592=
NM_001385290.1:c.1788G>A	NP_001372219.1:p.Leu596=
NM_001385292.1:c.1776G>A	NP_001372221.1:p.Leu592=