Canonical Allele Identifier: CA356916509

Gene: KIT

Linked Data

• ClinVar Variation Id: 458936
• ClinVar RCV Id: RCV000534255 ; RCV000764551
• dbSNP Id: rs1232060384
• gnomAD v2: 4-55604692-C-G
• gnomAD v3: 4-54738526-C-G
• gnomAD v4: 4-54738526-C-G
• MyVariant Identifiers: chr4:g.55604692C>G (hg19) ; chr4:g.54738526C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54738526C>G , CM000666.2:g.54738526C>G	GRCh38
NC_000004.11:g.55604692C>G , CM000666.1:g.55604692C>G	GRCh37
NC_000004.10:g.55299449C>G	NCBI36
NG_007456.1:g.85532C>G , LRG_307:g.85532C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2888C>G	ENSP00000390987.3:p.Ser963Cys
ENST00000684818.1:n.1592C>G
ENST00000685269.1:n.2978C>G
ENST00000686011.1:c.2885C>G	ENSP00000509704.1:p.Ser962Cys
ENST00000687109.1:c.2903C>G	ENSP00000509371.1:p.Ser968Cys
ENST00000687208.1:n.3312C>G
ENST00000687246.1:c.2765C>G	ENSP00000509114.1:p.Ser922Cys
ENST00000687265.1:n.3058C>G
ENST00000687295.1:c.2888C>G	ENSP00000509450.1:p.Ser963Cys
ENST00000688060.1:n.697C>G
ENST00000689832.1:c.2900C>G	ENSP00000509084.1:p.Ser967Cys
ENST00000689994.1:c.2390C>G	ENSP00000509156.1:p.Ser797Cys
ENST00000690543.1:c.2891C>G	ENSP00000508831.1:p.Ser964Cys
ENST00000690917.1:n.3118C>G
ENST00000691361.1:n.1810C>G
ENST00000692783.1:c.2897C>G	ENSP00000508733.1:p.Ser966Cys
ENST00000692991.1:n.2997C>G
ENST00000288135.6:c.2900C>G MANE Select	ENSP00000288135.6:p.Ser967Cys
ENST00000288135.5:c.2900C>G	ENSP00000288135.5:p.Ser967Cys
ENST00000412167.6:c.2888C>G	ENSP00000390987.2:p.Ser963Cys
NM_000222.2:c.2900C>G , LRG_307t1:c.2900C>G	NP_000213.1:p.Ser967Cys
NM_001093772.1:c.2888C>G	NP_001087241.1:p.Ser963Cys
XM_005265740.1:c.2903C>G	XP_005265797.1:p.Ser968Cys
XM_005265741.1:c.2900C>G	XP_005265798.1:p.Ser967Cys
XM_005265742.1:c.2891C>G	XP_005265799.1:p.Ser964Cys
XM_005265742.3:c.2891C>G	XP_005265799.1:p.Ser964Cys
XM_017008178.1:c.2897C>G	XP_016863667.1:p.Ser966Cys
XM_017008179.1:c.2888C>G	XP_016863668.1:p.Ser963Cys
XM_017008180.1:c.2885C>G	XP_016863669.1:p.Ser962Cys
NM_000222.3:c.2900C>G MANE Select	NP_000213.1:p.Ser967Cys
NM_001093772.2:c.2888C>G	NP_001087241.1:p.Ser963Cys
NM_001385284.1:c.2903C>G	NP_001372213.1:p.Ser968Cys
NM_001385285.1:c.2897C>G	NP_001372214.1:p.Ser966Cys
NM_001385286.1:c.2885C>G	NP_001372215.1:p.Ser962Cys
NM_001385288.1:c.2891C>G	NP_001372217.1:p.Ser964Cys
NM_001385290.1:c.2900C>G	NP_001372219.1:p.Ser967Cys
NM_001385292.1:c.2888C>G	NP_001372221.1:p.Ser963Cys