Canonical Allele Identifier: CA214059
Gene: IL7R HGNC NCBI
ClinVar Variation:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35875988A>C , CM000667.2:g.35875988A>C GRCh38
NC_000005.9:g.35876090A>C , CM000667.1:g.35876090A>C GRCh37
NC_000005.8:g.35911847A>C NCBI36
NG_009567.1:g.24100A>C , LRG_74:g.24100A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.882A>C MANE Select ENSP00000306157.3:p.Leu294Phe
ENST00000303115.7:c.882A>C ENSP00000306157.3:p.Leu294Phe
ENST00000505093.1:c.197A>C ENSP00000426069.1:p.Ter66Ser
ENST00000505875.1:n.180A>C
ENST00000514217.5:c.*76A>C ENSP00000427688.1:n.*76A>C
NM_002185.3:c.882A>C NP_002176.2:p.Leu294Phe
NR_120485.1:n.722A>C
XM_005248299.2:c.788A>C XP_005248356.1:p.Ter263Ser
NM_002185.4:c.882A>C NP_002176.2:p.Leu294Phe
NR_120485.2:n.748A>C
XM_005248299.4:c.788A>C XP_005248356.1:p.Ter263Ser
NM_002185.5:c.882A>C MANE Select NP_002176.2:p.Leu294Phe
NR_120485.3:n.706A>C