Canonical Allele Identifier: CA3231862
Gene: IL7R HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.35860981T>C
GRCh37 chr5:g.35861083T>C
Revel Score:
ENST00000303115 (MANE Select) 0.516
ENST00000343305 0.516
ENST00000506850 0.516
ENST00000511982 0.516
gnomAD v2:
5:35861083 T / C
gnomAD v3:
5:35860981 T / C
gnomAD v4:
chr5-35860981-T-C
Joint Max Group AF 0.00000553 (AMR)
ClinVar RCV:
RCV000483484
ClinVar Variation:
418257
dbSNP:
147423300
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35860981T>C , CM000667.2:g.35860981T>C GRCh38
NC_000005.9:g.35861083T>C , CM000667.1:g.35861083T>C GRCh37
NC_000005.8:g.35896840T>C NCBI36
NG_009567.1:g.9093T>C , LRG_74:g.9093T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.212T>C MANE Select ENSP00000306157.3:p.Phe71Ser
ENST00000303115.7:c.212T>C ENSP00000306157.3:p.Phe71Ser
ENST00000506850.5:c.212T>C ENSP00000421207.1:p.Phe71Ser
ENST00000511031.1:n.346T>C
ENST00000511982.1:c.212T>C ENSP00000425309.1:p.Phe71Ser
ENST00000514217.5:c.212T>C ENSP00000427688.1:p.Phe71Ser
NM_002185.3:c.212T>C NP_002176.2:p.Phe71Ser
NR_120485.1:n.315T>C
XM_005248299.2:c.212T>C XP_005248356.1:p.Phe71Ser
XM_005248300.1:c.212T>C XP_005248357.1:p.Phe71Ser
XM_011514037.1:c.212T>C XP_011512339.1:p.Phe71Ser
NM_002185.4:c.212T>C NP_002176.2:p.Phe71Ser
NR_120485.2:n.341T>C
XM_005248299.4:c.212T>C XP_005248356.1:p.Phe71Ser
NM_002185.5:c.212T>C MANE Select NP_002176.2:p.Phe71Ser
NR_120485.3:n.299T>C
Search 100 bp 5'
Search 100 bp 3'