Canonical Allele Identifier: CA241514993

Gene: KITLG

Linked Data

• dbSNP Id: rs1045541600
• gnomAD v3: 12-88532315-G-A
• gnomAD v4: 12-88532315-G-A
• MyVariant Identifiers: chr12:g.88926092G>A (hg19) ; chr12:g.88532315G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88532315G>A , CM000674.2:g.88532315G>A	GRCh38
NC_000012.11:g.88926092G>A , CM000674.1:g.88926092G>A	GRCh37
NC_000012.10:g.87450223G>A	NCBI36
NG_012098.1:g.53147C>T
NG_012098.2:g.53147C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347404.10:c.192+126C>T	ENSP00000054216.5:n.192+126C>T
ENST00000644744.1:c.192+126C>T MANE Select	ENSP00000495951.1:n.192+126C>T
ENST00000646633.1:c.*193+126C>T	ENSP00000494139.1:n.*193+126C>T
ENST00000228280.9:c.192+126C>T	ENSP00000228280.5:n.192+126C>T
ENST00000347404.9:c.192+126C>T	ENSP00000054216.5:n.192+126C>T
ENST00000357116.4:c.-47-25178C>T	ENSP00000474021.1:n.-47-25178C>T
ENST00000378535.4:n.135+126C>T
ENST00000552044.1:c.39+126C>T	ENSP00000475042.1:n.39+126C>T
NM_000899.4:c.192+126C>T	NP_000890.1:n.192+126C>T
NM_003994.5:c.192+126C>T	NP_003985.2:n.192+126C>T
NM_000899.5:c.192+126C>T MANE Select	NP_000890.1:n.192+126C>T
NM_003994.6:c.192+126C>T	NP_003985.2:n.192+126C>T