Canonical Allele Identifier: CA241515006

Gene: KITLG

Linked Data

• dbSNP Id: rs901634312
• gnomAD v2: 12-88926284-C-T
• gnomAD v3: 12-88532507-C-T
• gnomAD v4: 12-88532507-C-T
• MyVariant Identifiers: chr12:g.88926284C>T (hg19) ; chr12:g.88532507C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88532507C>T , CM000674.2:g.88532507C>T	GRCh38
NC_000012.11:g.88926284C>T , CM000674.1:g.88926284C>T	GRCh37
NC_000012.10:g.87450415C>T	NCBI36
NG_012098.1:g.52955G>A
NG_012098.2:g.52955G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347404.10:c.130-4G>A	ENSP00000054216.5:n.130-4G>A
ENST00000644744.1:c.130-4G>A MANE Select	ENSP00000495951.1:n.130-4G>A
ENST00000646633.1:c.*131-4G>A	ENSP00000494139.1:n.*131-4G>A
ENST00000228280.9:c.130-4G>A	ENSP00000228280.5:n.130-4G>A
ENST00000347404.9:c.130-4G>A	ENSP00000054216.5:n.130-4G>A
ENST00000357116.4:c.-47-25370G>A	ENSP00000474021.1:n.-47-25370G>A
ENST00000378535.4:n.73-4G>A
ENST00000552044.1:c.-24-4G>A	ENSP00000475042.1:n.-24-4G>A
NM_000899.4:c.130-4G>A	NP_000890.1:n.130-4G>A
NM_003994.5:c.130-4G>A	NP_003985.2:n.130-4G>A
NM_000899.5:c.130-4G>A MANE Select	NP_000890.1:n.130-4G>A
NM_003994.6:c.130-4G>A	NP_003985.2:n.130-4G>A