Canonical Allele Identifier: CA359430593
Gene: IL7R HGNC NCBI

Linked Data

dbSNP Id: rs1760124047
gnomAD v3: 5-35873508-C-G
gnomAD v4: 5-35873508-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35873508C>G , CM000667.2:g.35873508C>G GRCh38
NC_000005.9:g.35873610C>G , CM000667.1:g.35873610C>G GRCh37
NC_000005.8:g.35909367C>G NCBI36
NG_009567.1:g.21620C>G , LRG_74:g.21620C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.566C>G MANE Select ENSP00000306157.3:p.Thr189Arg
ENST00000303115.7:c.566C>G ENSP00000306157.3:p.Thr189Arg
ENST00000506850.5:c.566C>G ENSP00000421207.1:p.Thr189Arg
ENST00000509668.1:n.308C>G
ENST00000514217.5:c.538-2004C>G ENSP00000427688.1:n.538-2004C>G
NM_002185.3:c.566C>G NP_002176.2:p.Thr189Arg
NR_120485.1:n.641-2004C>G
XM_005248299.2:c.566C>G XP_005248356.1:p.Thr189Arg
XM_005248300.1:c.566C>G XP_005248357.1:p.Thr189Arg
XM_011514037.1:c.566C>G XP_011512339.1:p.Thr189Arg
NM_002185.4:c.566C>G NP_002176.2:p.Thr189Arg
NR_120485.2:n.667-2004C>G
XM_005248299.4:c.566C>G XP_005248356.1:p.Thr189Arg
NM_002185.5:c.566C>G MANE Select NP_002176.2:p.Thr189Arg
NR_120485.3:n.625-2004C>G