Canonical Allele Identifier: CA241516477

Gene: KITLG

Linked Data

• dbSNP Id: rs1015915844
• gnomAD v3: 12-88545620-C-A
• gnomAD v4: 12-88545620-C-A
• MyVariant Identifiers: chr12:g.88939397C>A (hg19) ; chr12:g.88545620C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88545620C>A , CM000674.2:g.88545620C>A	GRCh38
NC_000012.11:g.88939397C>A , CM000674.1:g.88939397C>A	GRCh37
NC_000012.10:g.87463528C>A	NCBI36
NG_012098.1:g.39842G>T
NG_012098.2:g.39842G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347404.10:c.129+132G>T	ENSP00000054216.5:n.129+132G>T
ENST00000644744.1:c.129+132G>T MANE Select	ENSP00000495951.1:n.129+132G>T
ENST00000646633.1:c.*130+132G>T	ENSP00000494139.1:n.*130+132G>T
ENST00000228280.9:c.129+132G>T	ENSP00000228280.5:n.129+132G>T
ENST00000347404.9:c.129+132G>T	ENSP00000054216.5:n.129+132G>T
ENST00000357116.4:c.-48+34644G>T	ENSP00000474021.1:n.-48+34644G>T
ENST00000552044.1:c.-25+132G>T	ENSP00000475042.1:n.-25+132G>T
NM_000899.4:c.129+132G>T	NP_000890.1:n.129+132G>T
NM_003994.5:c.129+132G>T	NP_003985.2:n.129+132G>T
NM_000899.5:c.129+132G>T MANE Select	NP_000890.1:n.129+132G>T
NM_003994.6:c.129+132G>T	NP_003985.2:n.129+132G>T