Canonical Allele Identifier: CA359431551
Gene: IL7R HGNC NCBI
dbSNP:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35874473C>A , CM000667.2:g.35874473C>A GRCh38
NC_000005.9:g.35874575C>A , CM000667.1:g.35874575C>A GRCh37
NC_000005.8:g.35910332C>A NCBI36
NG_009567.1:g.22585C>A , LRG_74:g.22585C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.731C>A MANE Select ENSP00000306157.3:p.Thr244Asn
ENST00000303115.7:c.731C>A ENSP00000306157.3:p.Thr244Asn
ENST00000505093.1:c.115+825C>A ENSP00000426069.1:n.115+825C>A
ENST00000506850.5:c.706+825C>A ENSP00000421207.1:n.706+825C>A
ENST00000509668.1:n.473C>A
ENST00000514217.5:c.538-1039C>A ENSP00000427688.1:n.538-1039C>A
NM_002185.3:c.731C>A NP_002176.2:p.Thr244Asn
NR_120485.1:n.641-1039C>A
XM_005248299.2:c.706+825C>A XP_005248356.1:n.706+825C>A
XM_005248300.1:c.706+825C>A XP_005248357.1:n.706+825C>A
XM_011514037.1:c.731C>A XP_011512339.1:p.Thr244Asn
NM_002185.4:c.731C>A NP_002176.2:p.Thr244Asn
NR_120485.2:n.667-1039C>A
XM_005248299.4:c.706+825C>A XP_005248356.1:n.706+825C>A
NM_002185.5:c.731C>A MANE Select NP_002176.2:p.Thr244Asn
NR_120485.3:n.625-1039C>A