Canonical Allele Identifier: CA3231932
Gene: IL7R HGNC NCBI

Linked Data

dbSNP Id: rs762188432
gnomAD v2: 5-35867564-A-G
gnomAD v4: 5-35867462-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35867462A>G , CM000667.2:g.35867462A>G GRCh38
NC_000005.9:g.35867564A>G , CM000667.1:g.35867564A>G GRCh37
NC_000005.8:g.35903321A>G NCBI36
NG_009567.1:g.15574A>G , LRG_74:g.15574A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.378A>G MANE Select ENSP00000306157.3:p.Ile126Met
ENST00000303115.7:c.378A>G ENSP00000306157.3:p.Ile126Met
ENST00000506850.5:c.378A>G ENSP00000421207.1:p.Ile126Met
ENST00000511031.1:n.512A>G
ENST00000511982.1:c.378A>G ENSP00000425309.1:p.Ile126Met
ENST00000514217.5:c.378A>G ENSP00000427688.1:p.Ile126Met
NM_002185.3:c.378A>G NP_002176.2:p.Ile126Met
NR_120485.1:n.481A>G
XM_005248299.2:c.378A>G XP_005248356.1:p.Ile126Met
XM_005248300.1:c.378A>G XP_005248357.1:p.Ile126Met
XM_011514037.1:c.378A>G XP_011512339.1:p.Ile126Met
NM_002185.4:c.378A>G NP_002176.2:p.Ile126Met
NR_120485.2:n.507A>G
XM_005248299.4:c.378A>G XP_005248356.1:p.Ile126Met
NM_002185.5:c.378A>G MANE Select NP_002176.2:p.Ile126Met
NR_120485.3:n.465A>G