Canonical Allele Identifier: CA3854340
Gene: IL17F HGNC NCBI
COSMIC:
COSM5020954 (not active)
MyVariant.info:
GRCh38 chr6:g.52236941T>C
GRCh37 chr6:g.52101739T>C
Revel Score:
ENST00000336123 (MANE Select) 0.066
gnomAD v2:
6:52101739 T / C
gnomAD v3:
6:52236941 T / C
gnomAD v4:
chr6-52236941-T-C
Joint Max Group AF 0.12889669 (EAS)
Genomes Max Group AF 0.1390118 (EAS)
Exomes Max Group AF 0.12665844 (EAS)
ClinVar RCV:
RCV000369036
RCV001618646
ClinVar Variation:
357466
dbSNP:
763780
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52236941T>C , CM000668.2:g.52236941T>C GRCh38
NC_000006.11:g.52101739T>C , CM000668.1:g.52101739T>C GRCh37
NC_000006.10:g.52209698T>C NCBI36
NG_031869.1:g.12560A>G , LRG_356:g.12560A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000699946.1:c.482A>G ENSP00000514702.1:p.His161Arg
ENST00000336123.5:c.482A>G MANE Select ENSP00000337432.4:p.His161Arg
ENST00000336123.4:c.482A>G ENSP00000337432.4:p.His161Arg
ENST00000478427.1:n.666A>G
NM_052872.3:c.482A>G , LRG_356t1:c.482A>G NP_443104.1:p.His161Arg
XM_011514276.1:c.482A>G XP_011512578.1:p.His161Arg
NM_052872.4:c.482A>G MANE Select NP_443104.1:p.His161Arg
Search 100 bp 5'
Search 100 bp 3'