Canonical Allele Identifier: CA359428007
Gene: IL7R HGNC NCBI

Linked Data

dbSNP Id: rs1319193412
gnomAD v2: 5-35867467-T-A
gnomAD v4: 5-35867365-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35867365T>A , CM000667.2:g.35867365T>A GRCh38
NC_000005.9:g.35867467T>A , CM000667.1:g.35867467T>A GRCh37
NC_000005.8:g.35903224T>A NCBI36
NG_009567.1:g.15477T>A , LRG_74:g.15477T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.281T>A MANE Select ENSP00000306157.3:p.Ile94Asn
ENST00000303115.7:c.281T>A ENSP00000306157.3:p.Ile94Asn
ENST00000506850.5:c.281T>A ENSP00000421207.1:p.Ile94Asn
ENST00000511031.1:n.415T>A
ENST00000511982.1:c.281T>A ENSP00000425309.1:p.Ile94Asn
ENST00000514217.5:c.281T>A ENSP00000427688.1:p.Ile94Asn
NM_002185.3:c.281T>A NP_002176.2:p.Ile94Asn
NR_120485.1:n.384T>A
XM_005248299.2:c.281T>A XP_005248356.1:p.Ile94Asn
XM_005248300.1:c.281T>A XP_005248357.1:p.Ile94Asn
XM_011514037.1:c.281T>A XP_011512339.1:p.Ile94Asn
NM_002185.4:c.281T>A NP_002176.2:p.Ile94Asn
NR_120485.2:n.410T>A
XM_005248299.4:c.281T>A XP_005248356.1:p.Ile94Asn
NM_002185.5:c.281T>A MANE Select NP_002176.2:p.Ile94Asn
NR_120485.3:n.368T>A