Canonical Allele Identifier: CA356912091

Gene: KIT

Linked Data

• ClinVar Variation Id: 583013
• ClinVar RCV Id: RCV000707231
• dbSNP Id: rs1560422319
• gnomAD v4: 4-54733191-A-G
• MyVariant Identifiers: chr4:g.55599357A>G (hg19) ; chr4:g.54733191A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733191A>G , CM000666.2:g.54733191A>G	GRCh38
NC_000004.11:g.55599357A>G , CM000666.1:g.55599357A>G	GRCh37
NC_000004.10:g.55294114A>G	NCBI36
NG_007456.1:g.80197A>G , LRG_307:g.80197A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2471A>G	ENSP00000390987.3:p.Asn824Ser
ENST00000685269.1:n.2561A>G
ENST00000686011.1:c.2468A>G	ENSP00000509704.1:p.Asn823Ser
ENST00000687109.1:c.2486A>G	ENSP00000509371.1:p.Asn829Ser
ENST00000687208.1:n.2895A>G
ENST00000687246.1:c.2349+1193A>G	ENSP00000509114.1:n.2349+1193A>G
ENST00000687265.1:n.2641A>G
ENST00000687295.1:c.2471A>G	ENSP00000509450.1:p.Asn824Ser
ENST00000688060.1:n.280A>G
ENST00000688704.1:n.1495A>G
ENST00000689832.1:c.2483A>G	ENSP00000509084.1:p.Asn828Ser
ENST00000689994.1:c.1973A>G	ENSP00000509156.1:p.Asn658Ser
ENST00000690543.1:c.2474A>G	ENSP00000508831.1:p.Asn825Ser
ENST00000690917.1:n.2701A>G
ENST00000691361.1:n.1393A>G
ENST00000692783.1:c.2480A>G	ENSP00000508733.1:p.Asn827Ser
ENST00000692991.1:n.2580A>G
ENST00000288135.6:c.2483A>G MANE Select	ENSP00000288135.6:p.Asn828Ser
ENST00000288135.5:c.2483A>G	ENSP00000288135.5:p.Asn828Ser
ENST00000412167.6:c.2471A>G	ENSP00000390987.2:p.Asn824Ser
ENST00000512959.1:n.536A>G
NM_000222.2:c.2483A>G , LRG_307t1:c.2483A>G	NP_000213.1:p.Asn828Ser
NM_001093772.1:c.2471A>G	NP_001087241.1:p.Asn824Ser
XM_005265740.1:c.2486A>G	XP_005265797.1:p.Asn829Ser
XM_005265741.1:c.2483A>G	XP_005265798.1:p.Asn828Ser
XM_005265742.1:c.2474A>G	XP_005265799.1:p.Asn825Ser
XM_005265742.3:c.2474A>G	XP_005265799.1:p.Asn825Ser
XM_017008178.1:c.2480A>G	XP_016863667.1:p.Asn827Ser
XM_017008179.1:c.2471A>G	XP_016863668.1:p.Asn824Ser
XM_017008180.1:c.2468A>G	XP_016863669.1:p.Asn823Ser
NM_000222.3:c.2483A>G MANE Select	NP_000213.1:p.Asn828Ser
NM_001093772.2:c.2471A>G	NP_001087241.1:p.Asn824Ser
NM_001385284.1:c.2486A>G	NP_001372213.1:p.Asn829Ser
NM_001385285.1:c.2480A>G	NP_001372214.1:p.Asn827Ser
NM_001385286.1:c.2468A>G	NP_001372215.1:p.Asn823Ser
NM_001385288.1:c.2474A>G	NP_001372217.1:p.Asn825Ser
NM_001385290.1:c.2483A>G	NP_001372219.1:p.Asn828Ser
NM_001385292.1:c.2471A>G	NP_001372221.1:p.Asn824Ser