Canonical Allele Identifier: CA1838587
Gene: IL1F10 HGNC NCBI
COSMIC:
COSM5447929 (not active)
COSM5447930 (not active)
MyVariant.info:
GRCh38 chr2:g.113074756C>A
GRCh37 chr2:g.113832333C>A
Revel Score:
ENST00000341010 (MANE Select) 0.034
ENST00000337569 0.034
ENST00000393197 0.034
gnomAD v2:
2:113832333 C / A
gnomAD v3:
2:113074756 C / A
gnomAD v4:
chr2-113074756-C-A
Joint Max Group AF 0.80077526 (MID)
Genomes Max Group AF 0.76243927 (SAS)
Exomes Max Group AF 0.79926931 (MID)
dbSNP:
6743376
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.113074756C>A , CM000664.2:g.113074756C>A GRCh38
NC_000002.11:g.113832333C>A , CM000664.1:g.113832333C>A GRCh37
NC_000002.10:g.113548804C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000393197.3:c.152C>A ENSP00000376893.2:p.Ala51Asp
ENST00000341010.6:c.152C>A MANE Select ENSP00000341794.2:p.Ala51Asp
ENST00000393197.2:c.152C>A ENSP00000376893.2:p.Ala51Asp
ENST00000496265.1:n.218C>A
NM_032556.5:c.152C>A NP_115945.4:p.Ala51Asp
NM_173161.2:c.152C>A NP_775184.1:p.Ala51Asp
NM_032556.6:c.152C>A NP_115945.4:p.Ala51Asp
NM_173161.3:c.152C>A MANE Select NP_775184.1:p.Ala51Asp
Search 100 bp 5'
Search 100 bp 3'