Canonical Allele Identifier: CA439291323

Gene: KIT

Linked Data

• ClinVar Variation Id: 2454100
• ClinVar RCV Id: RCV003172632
• dbSNP Id: rs1186816361
• gnomAD v2: 4-55594005-T-A
• gnomAD v4: 4-54727839-T-A
• MyVariant Identifiers: chr4:g.55594005T>A (hg19) ; chr4:g.54727839T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727839T>A , CM000666.2:g.54727839T>A	GRCh38
NC_000004.11:g.55594005T>A , CM000666.1:g.55594005T>A	GRCh37
NC_000004.10:g.55288762T>A	NCBI36
NG_007456.1:g.74845T>A , LRG_307:g.74845T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1782T>A	ENSP00000390987.3:p.Ala594=
ENST00000685269.1:n.1869T>A
ENST00000686011.1:c.1779T>A	ENSP00000509704.1:p.Ala593=
ENST00000687109.1:c.1794T>A	ENSP00000509371.1:p.Ala598=
ENST00000687208.1:n.2206T>A
ENST00000687246.1:c.1779T>A	ENSP00000509114.1:p.Ala593=
ENST00000687265.1:n.1949T>A
ENST00000687295.1:c.1779T>A	ENSP00000509450.1:p.Ala593=
ENST00000689832.1:c.1794T>A	ENSP00000509084.1:p.Ala598=
ENST00000689994.1:c.1281T>A	ENSP00000509156.1:p.Ala427=
ENST00000690543.1:c.1782T>A	ENSP00000508831.1:p.Ala594=
ENST00000690917.1:n.2009T>A
ENST00000691361.1:n.701T>A
ENST00000692783.1:c.1791T>A	ENSP00000508733.1:p.Ala597=
ENST00000692991.1:n.1888T>A
ENST00000288135.6:c.1791T>A MANE Select	ENSP00000288135.6:p.Ala597=
ENST00000288135.5:c.1791T>A	ENSP00000288135.5:p.Ala597=
ENST00000412167.6:c.1779T>A	ENSP00000390987.2:p.Ala593=
NM_000222.2:c.1791T>A , LRG_307t1:c.1791T>A	NP_000213.1:p.Ala597=
NM_001093772.1:c.1779T>A	NP_001087241.1:p.Ala593=
XM_005265740.1:c.1794T>A	XP_005265797.1:p.Ala598=
XM_005265741.1:c.1794T>A	XP_005265798.1:p.Ala598=
XM_005265742.1:c.1782T>A	XP_005265799.1:p.Ala594=
XM_005265742.3:c.1782T>A	XP_005265799.1:p.Ala594=
XM_017008178.1:c.1791T>A	XP_016863667.1:p.Ala597=
XM_017008179.1:c.1782T>A	XP_016863668.1:p.Ala594=
XM_017008180.1:c.1779T>A	XP_016863669.1:p.Ala593=
NM_000222.3:c.1791T>A MANE Select	NP_000213.1:p.Ala597=
NM_001093772.2:c.1779T>A	NP_001087241.1:p.Ala593=
NM_001385284.1:c.1794T>A	NP_001372213.1:p.Ala598=
NM_001385285.1:c.1791T>A	NP_001372214.1:p.Ala597=
NM_001385286.1:c.1779T>A	NP_001372215.1:p.Ala593=
NM_001385288.1:c.1782T>A	NP_001372217.1:p.Ala594=
NM_001385290.1:c.1794T>A	NP_001372219.1:p.Ala598=
NM_001385292.1:c.1782T>A	NP_001372221.1:p.Ala594=