Canonical Allele Identifier: CA241517990

Gene: KITLG

Linked Data

• dbSNP Id: rs951823314
• gnomAD v3: 12-88559781-C-G
• gnomAD v4: 12-88559781-C-G
• MyVariant Identifiers: chr12:g.88953558C>G (hg19) ; chr12:g.88559781C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88559781C>G , CM000674.2:g.88559781C>G	GRCh38
NC_000012.11:g.88953558C>G , CM000674.1:g.88953558C>G	GRCh37
NC_000012.10:g.87477689C>G	NCBI36
NG_012098.1:g.25681G>C
NG_012098.2:g.25681G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347404.10:c.16-13916G>C	ENSP00000054216.5:n.16-13916G>C
ENST00000644744.1:c.16-13916G>C MANE Select	ENSP00000495951.1:n.16-13916G>C
ENST00000646633.1:c.*17-13916G>C	ENSP00000494139.1:n.*17-13916G>C
ENST00000228280.9:c.16-13916G>C	ENSP00000228280.5:n.16-13916G>C
ENST00000347404.9:c.16-13916G>C	ENSP00000054216.5:n.16-13916G>C
ENST00000357116.4:c.-48+20483G>C	ENSP00000474021.1:n.-48+20483G>C
ENST00000552044.1:c.-139+4427G>C	ENSP00000475042.1:n.-139+4427G>C
NM_000899.4:c.16-13916G>C	NP_000890.1:n.16-13916G>C
NM_003994.5:c.16-13916G>C	NP_003985.2:n.16-13916G>C
NM_000899.5:c.16-13916G>C MANE Select	NP_000890.1:n.16-13916G>C
NM_003994.6:c.16-13916G>C	NP_003985.2:n.16-13916G>C