Canonical Allele Identifier: CA160111
Community Standard Title: NM_002185.5(IL7R):c.1043A>C (p.Asn348Thr)
Gene: IL7R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35876149A>C , CM000667.2:g.35876149A>C GRCh38
NC_000005.9:g.35876251A>C , CM000667.1:g.35876251A>C GRCh37
NC_000005.8:g.35912008A>C NCBI36
NG_009567.1:g.24261A>C , LRG_74:g.24261A>C

Transcript Alleles

HGVS Amino-acid Change
NM_002185.5:c.1043A>C MANE Select NP_002176.2:p.Asn348Thr
ENST00000303115.8:c.1043A>C MANE Select ENSP00000306157.3:p.Asn348Thr
NM_002185.3:c.1043A>C NP_002176.2:p.Asn348Thr
NM_002185.4:c.1043A>C NP_002176.2:p.Asn348Thr
NR_120485.1:n.883A>C
NR_120485.2:n.909A>C
NR_120485.3:n.867A>C
ENST00000303115.7:c.1043A>C ENSP00000306157.3:p.Asn348Thr
ENST00000505093.1:c.358A>C ENSP00000426069.1:n.358A>C
ENST00000505875.1:n.341A>C
ENST00000514217.5:c.*237A>C ENSP00000427688.1:n.*237A>C
XM_005248299.2:c.*160A>C XP_005248356.1:n.*160A>C
XM_005248299.4:c.*160A>C XP_005248356.1:n.*160A>C