Canonical Allele Identifier: CA439291832

Gene: KIT

Linked Data

• ClinVar Variation Id: 1992922
• ClinVar RCV Id: RCV002796290
• gnomAD v4: 4-54733099-T-C
• MyVariant Identifiers: chr4:g.55599265T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733099T>C , CM000666.2:g.54733099T>C	GRCh38
NC_000004.11:g.55599265T>C , CM000666.1:g.55599265T>C	GRCh37
NC_000004.10:g.55294022T>C	NCBI36
NG_007456.1:g.80105T>C , LRG_307:g.80105T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000412167.7:c.2379T>C	ENSP00000390987.3:p.Asn793=
ENST00000685269.1:n.2469T>C
ENST00000686011.1:c.2376T>C	ENSP00000509704.1:p.Asn792=
ENST00000687109.1:c.2394T>C	ENSP00000509371.1:p.Asn798=
ENST00000687208.1:n.2803T>C
ENST00000687246.1:c.2349+1101T>C	ENSP00000509114.1:n.2349+1101T>C
ENST00000687265.1:n.2549T>C
ENST00000687295.1:c.2379T>C	ENSP00000509450.1:p.Asn793=
ENST00000688060.1:n.188T>C
ENST00000688704.1:n.1403T>C
ENST00000689832.1:c.2391T>C	ENSP00000509084.1:p.Asn797=
ENST00000689994.1:c.1881T>C	ENSP00000509156.1:p.Asn627=
ENST00000690543.1:c.2382T>C	ENSP00000508831.1:p.Asn794=
ENST00000690917.1:n.2609T>C
ENST00000691361.1:n.1301T>C
ENST00000692783.1:c.2388T>C	ENSP00000508733.1:p.Asn796=
ENST00000692991.1:n.2488T>C
ENST00000288135.6:c.2391T>C MANE Select	ENSP00000288135.6:p.Asn797=
ENST00000288135.5:c.2391T>C	ENSP00000288135.5:p.Asn797=
ENST00000412167.6:c.2379T>C	ENSP00000390987.2:p.Asn793=
ENST00000512959.1:n.444T>C
NM_000222.2:c.2391T>C , LRG_307t1:c.2391T>C	NP_000213.1:p.Asn797=
NM_001093772.1:c.2379T>C	NP_001087241.1:p.Asn793=
XM_005265740.1:c.2394T>C	XP_005265797.1:p.Asn798=
XM_005265741.1:c.2391T>C	XP_005265798.1:p.Asn797=
XM_005265742.1:c.2382T>C	XP_005265799.1:p.Asn794=
XM_005265742.3:c.2382T>C	XP_005265799.1:p.Asn794=
XM_017008178.1:c.2388T>C	XP_016863667.1:p.Asn796=
XM_017008179.1:c.2379T>C	XP_016863668.1:p.Asn793=
XM_017008180.1:c.2376T>C	XP_016863669.1:p.Asn792=
NM_000222.3:c.2391T>C MANE Select	NP_000213.1:p.Asn797=
NM_001093772.2:c.2379T>C	NP_001087241.1:p.Asn793=
NM_001385284.1:c.2394T>C	NP_001372213.1:p.Asn798=
NM_001385285.1:c.2388T>C	NP_001372214.1:p.Asn796=
NM_001385286.1:c.2376T>C	NP_001372215.1:p.Asn792=
NM_001385288.1:c.2382T>C	NP_001372217.1:p.Asn794=
NM_001385290.1:c.2391T>C	NP_001372219.1:p.Asn797=
NM_001385292.1:c.2379T>C	NP_001372221.1:p.Asn793=