Canonical Allele Identifier: CA2923108

Gene: KIT

Linked Data

• ClinVar Variation Id: 255567
• ClinVar RCV Id: RCV000244072 ; RCV000295737 ; RCV000385308 ; RCV000330786 ; RCV003237804
• dbSNP Id: rs140909964
• ExAC: 4:55524168 T / A
• gnomAD v2: 4-55524168-T-A
• gnomAD v3: 4-54658001-T-A
• gnomAD v4: 4-54658001-T-A
• MyVariant Identifiers: chr4:g.55524168T>A (hg19) ; chr4:g.54658001T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54658001T>A , CM000666.2:g.54658001T>A	GRCh38
NC_000004.11:g.55524168T>A , CM000666.1:g.55524168T>A	GRCh37
NC_000004.10:g.55218925T>A	NCBI36
NG_007456.1:g.5008T>A , LRG_307:g.5008T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.-14T>A	ENSP00000390987.3:n.-14T>A
ENST00000686011.1:c.-14T>A	ENSP00000509704.1:n.-14T>A
ENST00000687109.1:c.-14T>A	ENSP00000509371.1:n.-14T>A
ENST00000687246.1:c.-14T>A	ENSP00000509114.1:n.-14T>A
ENST00000687295.1:c.-14T>A	ENSP00000509450.1:n.-14T>A
ENST00000689832.1:c.-14T>A	ENSP00000509084.1:n.-14T>A
ENST00000689994.1:c.-444+646T>A	ENSP00000509156.1:n.-444+646T>A
ENST00000690543.1:c.-14T>A	ENSP00000508831.1:n.-14T>A
ENST00000692783.1:c.-14T>A	ENSP00000508733.1:n.-14T>A
ENST00000288135.6:c.-14T>A MANE Select	ENSP00000288135.6:n.-14T>A
ENST00000288135.5:c.-14T>A	ENSP00000288135.5:n.-14T>A
ENST00000412167.6:c.-14T>A	ENSP00000390987.2:n.-14T>A
ENST00000514582.1:n.63T>A
NM_000222.2:c.-14T>A , LRG_307t1:c.-14T>A	NP_000213.1:n.-14T>A
NM_001093772.1:c.-14T>A	NP_001087241.1:n.-14T>A
XM_005265740.1:c.-14T>A	XP_005265797.1:n.-14T>A
XM_005265741.1:c.-14T>A	XP_005265798.1:n.-14T>A
XM_005265742.1:c.-14T>A	XP_005265799.1:n.-14T>A
XM_005265742.3:c.-14T>A	XP_005265799.1:n.-14T>A
XM_017008178.1:c.-14T>A	XP_016863667.1:n.-14T>A
XM_017008179.1:c.-14T>A	XP_016863668.1:n.-14T>A
XM_017008180.1:c.-14T>A	XP_016863669.1:n.-14T>A
NM_000222.3:c.-14T>A MANE Select	NP_000213.1:n.-14T>A
NM_001093772.2:c.-14T>A	NP_001087241.1:n.-14T>A
NM_001385284.1:c.-14T>A	NP_001372213.1:n.-14T>A
NM_001385285.1:c.-14T>A	NP_001372214.1:n.-14T>A
NM_001385286.1:c.-14T>A	NP_001372215.1:n.-14T>A
NM_001385288.1:c.-14T>A	NP_001372217.1:n.-14T>A
NM_001385290.1:c.-14T>A	NP_001372219.1:n.-14T>A
NM_001385292.1:c.-14T>A	NP_001372221.1:n.-14T>A