Canonical Allele Identifier: CA16606383
Gene: KITLG HGNC NCBI

Linked Data

ClinVar Variation Id: 379240
ClinVar RCV Id: RCV000445155
dbSNP Id: rs1057520539
MyVariant Identifiers: chr12:g.88939550A>T (hg19) chr12:g.88545773A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88545773A>T , CM000674.2:g.88545773A>T GRCh38
NC_000012.11:g.88939550A>T , CM000674.1:g.88939550A>T GRCh37
NC_000012.10:g.87463681A>T NCBI36
NG_012098.1:g.39689T>A
NG_012098.2:g.39689T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000347404.10:c.108T>A ENSP00000054216.5:p.Asn36Lys
ENST00000644744.1:c.108T>A MANE Select ENSP00000495951.1:p.Asn36Lys
ENST00000646633.1:c.*109T>A ENSP00000494139.1:n.*109T>A
ENST00000228280.9:c.108T>A ENSP00000228280.5:p.Asn36Lys
ENST00000347404.9:c.108T>A ENSP00000054216.5:p.Asn36Lys
ENST00000357116.4:c.-48+34491T>A ENSP00000474021.1:n.-48+34491T>A
ENST00000552044.1:c.-46T>A ENSP00000475042.1:n.-46T>A
NM_000899.4:c.108T>A NP_000890.1:p.Asn36Lys
NM_003994.5:c.108T>A NP_003985.2:p.Asn36Lys
NM_000899.5:c.108T>A MANE Select NP_000890.1:p.Asn36Lys
NM_003994.6:c.108T>A NP_003985.2:p.Asn36Lys
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