Canonical Allele Identifier: CA6713827

Gene: KITLG

Linked Data

• dbSNP Id: rs758185472
• ExAC: 12:88939563 C / T
• gnomAD v2: 12-88939563-C-T
• gnomAD v3: 12-88545786-C-T
• gnomAD v4: 12-88545786-C-T
• MyVariant Identifiers: chr12:g.88939563C>T (hg19) ; chr12:g.88545786C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88545786C>T , CM000674.2:g.88545786C>T	GRCh38
NC_000012.11:g.88939563C>T , CM000674.1:g.88939563C>T	GRCh37
NC_000012.10:g.87463694C>T	NCBI36
NG_012098.1:g.39676G>A
NG_012098.2:g.39676G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347404.10:c.95G>A	ENSP00000054216.5:p.Arg32His
ENST00000644744.1:c.95G>A MANE Select	ENSP00000495951.1:p.Arg32His
ENST00000646633.1:c.*96G>A	ENSP00000494139.1:n.*96G>A
ENST00000228280.9:c.95G>A	ENSP00000228280.5:p.Arg32His
ENST00000347404.9:c.95G>A	ENSP00000054216.5:p.Arg32His
ENST00000357116.4:c.-48+34478G>A	ENSP00000474021.1:n.-48+34478G>A
ENST00000552044.1:c.-59G>A	ENSP00000475042.1:n.-59G>A
NM_000899.4:c.95G>A	NP_000890.1:p.Arg32His
NM_003994.5:c.95G>A	NP_003985.2:p.Arg32His
NM_000899.5:c.95G>A MANE Select	NP_000890.1:p.Arg32His
NM_003994.6:c.95G>A	NP_003985.2:p.Arg32His