Canonical Allele Identifier: CA2923488

Gene: KIT

Linked Data

• ClinVar Variation Id: 2454116
• ClinVar RCV Id: RCV003172648 ; RCV003638919
• dbSNP Id: rs754233899
• ExAC: 4:55592107 T / C
• gnomAD v2: 4-55592107-T-C
• gnomAD v3: 4-54725941-T-C
• gnomAD v4: 4-54725941-T-C
• MyVariant Identifiers: chr4:g.55592107T>C (hg19) ; chr4:g.54725941T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54725941T>C , CM000666.2:g.54725941T>C	GRCh38
NC_000004.11:g.55592107T>C , CM000666.1:g.55592107T>C	GRCh37
NC_000004.10:g.55286864T>C	NCBI36
NG_007456.1:g.72947T>C , LRG_307:g.72947T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1434T>C	ENSP00000390987.3:p.Ser478=
ENST00000685269.1:n.1509T>C
ENST00000685816.1:c.369T>C	ENSP00000508749.1:p.Ser123=
ENST00000686011.1:c.1431T>C	ENSP00000509704.1:p.Ser477=
ENST00000687109.1:c.1434T>C	ENSP00000509371.1:p.Ser478=
ENST00000687208.1:n.1846T>C
ENST00000687246.1:c.1431T>C	ENSP00000509114.1:p.Ser477=
ENST00000687265.1:n.1601T>C
ENST00000687295.1:c.1431T>C	ENSP00000509450.1:p.Ser477=
ENST00000689832.1:c.1434T>C	ENSP00000509084.1:p.Ser478=
ENST00000689994.1:c.921T>C	ENSP00000509156.1:p.Ser307=
ENST00000690543.1:c.1434T>C	ENSP00000508831.1:p.Ser478=
ENST00000690917.1:n.1649T>C
ENST00000691361.1:n.353T>C
ENST00000692783.1:c.1431T>C	ENSP00000508733.1:p.Ser477=
ENST00000692991.1:n.1540T>C
ENST00000288135.6:c.1431T>C MANE Select	ENSP00000288135.6:p.Ser477=
ENST00000288135.5:c.1431T>C	ENSP00000288135.5:p.Ser477=
ENST00000412167.6:c.1431T>C	ENSP00000390987.2:p.Ser477=
NM_000222.2:c.1431T>C , LRG_307t1:c.1431T>C	NP_000213.1:p.Ser477=
NM_001093772.1:c.1431T>C	NP_001087241.1:p.Ser477=
XM_005265740.1:c.1434T>C	XP_005265797.1:p.Ser478=
XM_005265741.1:c.1434T>C	XP_005265798.1:p.Ser478=
XM_005265742.1:c.1434T>C	XP_005265799.1:p.Ser478=
XM_005265742.3:c.1434T>C	XP_005265799.1:p.Ser478=
XM_017008178.1:c.1431T>C	XP_016863667.1:p.Ser477=
XM_017008179.1:c.1434T>C	XP_016863668.1:p.Ser478=
XM_017008180.1:c.1431T>C	XP_016863669.1:p.Ser477=
NM_000222.3:c.1431T>C MANE Select	NP_000213.1:p.Ser477=
NM_001093772.2:c.1431T>C	NP_001087241.1:p.Ser477=
NM_001385284.1:c.1434T>C	NP_001372213.1:p.Ser478=
NM_001385285.1:c.1431T>C	NP_001372214.1:p.Ser477=
NM_001385286.1:c.1431T>C	NP_001372215.1:p.Ser477=
NM_001385288.1:c.1434T>C	NP_001372217.1:p.Ser478=
NM_001385290.1:c.1434T>C	NP_001372219.1:p.Ser478=
NM_001385292.1:c.1434T>C	NP_001372221.1:p.Ser478=