Canonical Allele Identifier: CA3231931
Gene: IL7R HGNC NCBI

Linked Data

dbSNP Id: rs201207454
gnomAD v2: 5-35867562-A-G
gnomAD v3: 5-35867460-A-G
gnomAD v4: 5-35867460-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35867460A>G , CM000667.2:g.35867460A>G GRCh38
NC_000005.9:g.35867562A>G , CM000667.1:g.35867562A>G GRCh37
NC_000005.8:g.35903319A>G NCBI36
NG_009567.1:g.15572A>G , LRG_74:g.15572A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.376A>G MANE Select ENSP00000306157.3:p.Ile126Val
ENST00000303115.7:c.376A>G ENSP00000306157.3:p.Ile126Val
ENST00000506850.5:c.376A>G ENSP00000421207.1:p.Ile126Val
ENST00000511031.1:n.510A>G
ENST00000511982.1:c.376A>G ENSP00000425309.1:p.Ile126Val
ENST00000514217.5:c.376A>G ENSP00000427688.1:p.Ile126Val
NM_002185.3:c.376A>G NP_002176.2:p.Ile126Val
NR_120485.1:n.479A>G
XM_005248299.2:c.376A>G XP_005248356.1:p.Ile126Val
XM_005248300.1:c.376A>G XP_005248357.1:p.Ile126Val
XM_011514037.1:c.376A>G XP_011512339.1:p.Ile126Val
NM_002185.4:c.376A>G NP_002176.2:p.Ile126Val
NR_120485.2:n.505A>G
XM_005248299.4:c.376A>G XP_005248356.1:p.Ile126Val
NM_002185.5:c.376A>G MANE Select NP_002176.2:p.Ile126Val
NR_120485.3:n.463A>G