Canonical Allele Identifier: CA606614678

Gene: KITLG

Linked Data

• dbSNP Id: rs1336236806
• gnomAD v2: 12-88954031-T-C
• gnomAD v3: 12-88560254-T-C
• gnomAD v4: 12-88560254-T-C
• MyVariant Identifiers: chr12:g.88954031T>C (hg19) ; chr12:g.88560254T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88560254T>C , CM000674.2:g.88560254T>C	GRCh38
NC_000012.11:g.88954031T>C , CM000674.1:g.88954031T>C	GRCh37
NC_000012.10:g.87478162T>C	NCBI36
NG_012098.1:g.25208A>G
NG_012098.2:g.25208A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000347404.10:c.16-14389A>G	ENSP00000054216.5:n.16-14389A>G
ENST00000644744.1:c.16-14389A>G MANE Select	ENSP00000495951.1:n.16-14389A>G
ENST00000646633.1:c.*17-14389A>G	ENSP00000494139.1:n.*17-14389A>G
ENST00000228280.9:c.16-14389A>G	ENSP00000228280.5:n.16-14389A>G
ENST00000347404.9:c.16-14389A>G	ENSP00000054216.5:n.16-14389A>G
ENST00000357116.4:c.-48+20010A>G	ENSP00000474021.1:n.-48+20010A>G
ENST00000552044.1:c.-139+3954A>G	ENSP00000475042.1:n.-139+3954A>G
NM_000899.4:c.16-14389A>G	NP_000890.1:n.16-14389A>G
NM_003994.5:c.16-14389A>G	NP_003985.2:n.16-14389A>G
NM_000899.5:c.16-14389A>G MANE Select	NP_000890.1:n.16-14389A>G
NM_003994.6:c.16-14389A>G	NP_003985.2:n.16-14389A>G