Canonical Allele Identifier: CA356908520

Gene: KIT

Linked Data

• ClinVar Variation Id: 853514
• ClinVar RCV Id: RCV001058337
• dbSNP Id: rs1177837541
• gnomAD v3: 4-54728043-A-G
• gnomAD v4: 4-54728043-A-G
• MyVariant Identifiers: chr4:g.55594209A>G (hg19) ; chr4:g.54728043A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54728043A>G , CM000666.2:g.54728043A>G	GRCh38
NC_000004.11:g.55594209A>G , CM000666.1:g.55594209A>G	GRCh37
NC_000004.10:g.55288966A>G	NCBI36
NG_007456.1:g.75049A>G , LRG_307:g.75049A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1903A>G	ENSP00000390987.3:p.Met635Val
ENST00000685269.1:n.1990A>G
ENST00000686011.1:c.1900A>G	ENSP00000509704.1:p.Met634Val
ENST00000687109.1:c.1915A>G	ENSP00000509371.1:p.Met639Val
ENST00000687208.1:n.2327A>G
ENST00000687246.1:c.1900A>G	ENSP00000509114.1:p.Met634Val
ENST00000687265.1:n.2070A>G
ENST00000687295.1:c.1900A>G	ENSP00000509450.1:p.Met634Val
ENST00000689832.1:c.1915A>G	ENSP00000509084.1:p.Met639Val
ENST00000689994.1:c.1402A>G	ENSP00000509156.1:p.Met468Val
ENST00000690543.1:c.1903A>G	ENSP00000508831.1:p.Met635Val
ENST00000690917.1:n.2130A>G
ENST00000691361.1:n.822A>G
ENST00000692783.1:c.1912A>G	ENSP00000508733.1:p.Met638Val
ENST00000692991.1:n.2009A>G
ENST00000288135.6:c.1912A>G MANE Select	ENSP00000288135.6:p.Met638Val
ENST00000288135.5:c.1912A>G	ENSP00000288135.5:p.Met638Val
ENST00000412167.6:c.1900A>G	ENSP00000390987.2:p.Met634Val
NM_000222.2:c.1912A>G , LRG_307t1:c.1912A>G	NP_000213.1:p.Met638Val
NM_001093772.1:c.1900A>G	NP_001087241.1:p.Met634Val
XM_005265740.1:c.1915A>G	XP_005265797.1:p.Met639Val
XM_005265741.1:c.1915A>G	XP_005265798.1:p.Met639Val
XM_005265742.1:c.1903A>G	XP_005265799.1:p.Met635Val
XM_005265742.3:c.1903A>G	XP_005265799.1:p.Met635Val
XM_017008178.1:c.1912A>G	XP_016863667.1:p.Met638Val
XM_017008179.1:c.1903A>G	XP_016863668.1:p.Met635Val
XM_017008180.1:c.1900A>G	XP_016863669.1:p.Met634Val
NM_000222.3:c.1912A>G MANE Select	NP_000213.1:p.Met638Val
NM_001093772.2:c.1900A>G	NP_001087241.1:p.Met634Val
NM_001385284.1:c.1915A>G	NP_001372213.1:p.Met639Val
NM_001385285.1:c.1912A>G	NP_001372214.1:p.Met638Val
NM_001385286.1:c.1900A>G	NP_001372215.1:p.Met634Val
NM_001385288.1:c.1903A>G	NP_001372217.1:p.Met635Val
NM_001385290.1:c.1915A>G	NP_001372219.1:p.Met639Val
NM_001385292.1:c.1903A>G	NP_001372221.1:p.Met635Val