Canonical Allele Identifier: CA13651627
Gene: KITLG HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.88496894A>G
GRCh37 chr12:g.88890671A>G
gnomAD v2:
12:88890671 A / G
gnomAD v3:
12:88496894 A / G
gnomAD v4:
chr12-88496894-A-G
Joint Max Group AF 0.80406701 (NFE)
Genomes Max Group AF 0.80481275 (NFE)
Exomes Max Group AF 0.77695821 (NFE)
dbSNP:
995030
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88496894A>G , CM000674.2:g.88496894A>G GRCh38
NC_000012.11:g.88890671A>G , CM000674.1:g.88890671A>G GRCh37
NC_000012.10:g.87414802A>G NCBI36
NG_012098.1:g.88568T>C
NG_012098.2:g.88568T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000347404.10:c.*325T>C ENSP00000054216.5:n.*325T>C
ENST00000644744.1:c.*325T>C MANE Select ENSP00000495951.1:n.*325T>C
ENST00000646633.1:c.*1148T>C ENSP00000494139.1:n.*1148T>C
ENST00000228280.9:c.*325T>C ENSP00000228280.5:n.*325T>C
ENST00000347404.9:c.*325T>C ENSP00000054216.5:n.*325T>C
ENST00000378535.4:n.1090T>C
NM_000899.4:c.*325T>C NP_000890.1:n.*325T>C
NM_003994.5:c.*325T>C NP_003985.2:n.*325T>C
NM_000899.5:c.*325T>C MANE Select NP_000890.1:n.*325T>C
NM_003994.6:c.*325T>C NP_003985.2:n.*325T>C
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