Canonical Allele Identifier: CA439292091

Gene: KIT

Linked Data

• ClinVar Variation Id: 1155796
• ClinVar RCV Id: RCV001498234
• dbSNP Id: rs779706462
• gnomAD v2: 4-55602763-C-T
• gnomAD v4: 4-54736597-C-T
• MyVariant Identifiers: chr4:g.55602763C>T (hg19) ; chr4:g.54736597C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54736597C>T , CM000666.2:g.54736597C>T	GRCh38
NC_000004.11:g.55602763C>T , CM000666.1:g.55602763C>T	GRCh37
NC_000004.10:g.55297520C>T	NCBI36
NG_007456.1:g.83603C>T , LRG_307:g.83603C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2572C>T	ENSP00000390987.3:p.Leu858=
ENST00000684818.1:n.1276C>T
ENST00000685269.1:n.2662C>T
ENST00000686011.1:c.2569C>T	ENSP00000509704.1:p.Leu857=
ENST00000687109.1:c.2587C>T	ENSP00000509371.1:p.Leu863=
ENST00000687208.1:n.2996C>T
ENST00000687246.1:c.2449C>T	ENSP00000509114.1:p.Leu817=
ENST00000687265.1:n.2742C>T
ENST00000687295.1:c.2572C>T	ENSP00000509450.1:p.Leu858=
ENST00000688060.1:n.381C>T
ENST00000689832.1:c.2584C>T	ENSP00000509084.1:p.Leu862=
ENST00000689994.1:c.2074C>T	ENSP00000509156.1:p.Leu692=
ENST00000690543.1:c.2575C>T	ENSP00000508831.1:p.Leu859=
ENST00000690917.1:n.2802C>T
ENST00000691361.1:n.1494C>T
ENST00000692301.1:n.1276C>T
ENST00000692783.1:c.2581C>T	ENSP00000508733.1:p.Leu861=
ENST00000692991.1:n.2681C>T
ENST00000288135.6:c.2584C>T MANE Select	ENSP00000288135.6:p.Leu862=
ENST00000288135.5:c.2584C>T	ENSP00000288135.5:p.Leu862=
ENST00000412167.6:c.2572C>T	ENSP00000390987.2:p.Leu858=
NM_000222.2:c.2584C>T , LRG_307t1:c.2584C>T	NP_000213.1:p.Leu862=
NM_001093772.1:c.2572C>T	NP_001087241.1:p.Leu858=
XM_005265740.1:c.2587C>T	XP_005265797.1:p.Leu863=
XM_005265741.1:c.2584C>T	XP_005265798.1:p.Leu862=
XM_005265742.1:c.2575C>T	XP_005265799.1:p.Leu859=
XM_005265742.3:c.2575C>T	XP_005265799.1:p.Leu859=
XM_017008178.1:c.2581C>T	XP_016863667.1:p.Leu861=
XM_017008179.1:c.2572C>T	XP_016863668.1:p.Leu858=
XM_017008180.1:c.2569C>T	XP_016863669.1:p.Leu857=
NM_000222.3:c.2584C>T MANE Select	NP_000213.1:p.Leu862=
NM_001093772.2:c.2572C>T	NP_001087241.1:p.Leu858=
NM_001385284.1:c.2587C>T	NP_001372213.1:p.Leu863=
NM_001385285.1:c.2581C>T	NP_001372214.1:p.Leu861=
NM_001385286.1:c.2569C>T	NP_001372215.1:p.Leu857=
NM_001385288.1:c.2575C>T	NP_001372217.1:p.Leu859=
NM_001385290.1:c.2584C>T	NP_001372219.1:p.Leu862=
NM_001385292.1:c.2572C>T	NP_001372221.1:p.Leu858=