Canonical Allele Identifier: CA356911932

Gene: KIT

Linked Data

• gnomAD v4: 4-54733162-G-T
• MyVariant Identifiers: chr4:g.55599328G>T (hg19) ; chr4:g.54733162G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733162G>T , CM000666.2:g.54733162G>T	GRCh38
NC_000004.11:g.55599328G>T , CM000666.1:g.55599328G>T	GRCh37
NC_000004.10:g.55294085G>T	NCBI36
NG_007456.1:g.80168G>T , LRG_307:g.80168G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2442G>T	ENSP00000390987.3:p.Lys814Asn
ENST00000685269.1:n.2532G>T
ENST00000686011.1:c.2439G>T	ENSP00000509704.1:p.Lys813Asn
ENST00000687109.1:c.2457G>T	ENSP00000509371.1:p.Lys819Asn
ENST00000687208.1:n.2866G>T
ENST00000687246.1:c.2349+1164G>T	ENSP00000509114.1:n.2349+1164G>T
ENST00000687265.1:n.2612G>T
ENST00000687295.1:c.2442G>T	ENSP00000509450.1:p.Lys814Asn
ENST00000688060.1:n.251G>T
ENST00000688704.1:n.1466G>T
ENST00000689832.1:c.2454G>T	ENSP00000509084.1:p.Lys818Asn
ENST00000689994.1:c.1944G>T	ENSP00000509156.1:p.Lys648Asn
ENST00000690543.1:c.2445G>T	ENSP00000508831.1:p.Lys815Asn
ENST00000690917.1:n.2672G>T
ENST00000691361.1:n.1364G>T
ENST00000692783.1:c.2451G>T	ENSP00000508733.1:p.Lys817Asn
ENST00000692991.1:n.2551G>T
ENST00000288135.6:c.2454G>T MANE Select	ENSP00000288135.6:p.Lys818Asn
ENST00000288135.5:c.2454G>T	ENSP00000288135.5:p.Lys818Asn
ENST00000412167.6:c.2442G>T	ENSP00000390987.2:p.Lys814Asn
ENST00000512959.1:n.507G>T
NM_000222.2:c.2454G>T , LRG_307t1:c.2454G>T	NP_000213.1:p.Lys818Asn
NM_001093772.1:c.2442G>T	NP_001087241.1:p.Lys814Asn
XM_005265740.1:c.2457G>T	XP_005265797.1:p.Lys819Asn
XM_005265741.1:c.2454G>T	XP_005265798.1:p.Lys818Asn
XM_005265742.1:c.2445G>T	XP_005265799.1:p.Lys815Asn
XM_005265742.3:c.2445G>T	XP_005265799.1:p.Lys815Asn
XM_017008178.1:c.2451G>T	XP_016863667.1:p.Lys817Asn
XM_017008179.1:c.2442G>T	XP_016863668.1:p.Lys814Asn
XM_017008180.1:c.2439G>T	XP_016863669.1:p.Lys813Asn
NM_000222.3:c.2454G>T MANE Select	NP_000213.1:p.Lys818Asn
NM_001093772.2:c.2442G>T	NP_001087241.1:p.Lys814Asn
NM_001385284.1:c.2457G>T	NP_001372213.1:p.Lys819Asn
NM_001385285.1:c.2451G>T	NP_001372214.1:p.Lys817Asn
NM_001385286.1:c.2439G>T	NP_001372215.1:p.Lys813Asn
NM_001385288.1:c.2445G>T	NP_001372217.1:p.Lys815Asn
NM_001385290.1:c.2454G>T	NP_001372219.1:p.Lys818Asn
NM_001385292.1:c.2442G>T	NP_001372221.1:p.Lys814Asn