Canonical Allele Identifier: CA386122842

Gene: KITLG

Linked Data

• dbSNP Id: rs1870133439
• gnomAD v4: 12-88532466-T-C
• MyVariant Identifiers: chr12:g.88926243T>C (hg19) ; chr12:g.88532466T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88532466T>C , CM000674.2:g.88532466T>C	GRCh38
NC_000012.11:g.88926243T>C , CM000674.1:g.88926243T>C	GRCh37
NC_000012.10:g.87450374T>C	NCBI36
NG_012098.1:g.52996A>G
NG_012098.2:g.52996A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347404.10:c.167A>G	ENSP00000054216.5:p.Lys56Arg
ENST00000644744.1:c.167A>G MANE Select	ENSP00000495951.1:p.Lys56Arg
ENST00000646633.1:c.*168A>G	ENSP00000494139.1:n.*168A>G
ENST00000228280.9:c.167A>G	ENSP00000228280.5:p.Lys56Arg
ENST00000347404.9:c.167A>G	ENSP00000054216.5:p.Lys56Arg
ENST00000357116.4:c.-47-25329A>G	ENSP00000474021.1:n.-47-25329A>G
ENST00000378535.4:n.110A>G
ENST00000552044.1:c.14A>G	ENSP00000475042.1:p.Lys5Arg
NM_000899.4:c.167A>G	NP_000890.1:p.Lys56Arg
NM_003994.5:c.167A>G	NP_003985.2:p.Lys56Arg
NM_000899.5:c.167A>G MANE Select	NP_000890.1:p.Lys56Arg
NM_003994.6:c.167A>G	NP_003985.2:p.Lys56Arg