Canonical Allele Identifier: CA116967584
Gene: IL7R HGNC NCBI

Linked Data

dbSNP Id: rs746223072
gnomAD v2: 5-35867697-T-A
gnomAD v3: 5-35867595-T-A
gnomAD v4: 5-35867595-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35867595T>A , CM000667.2:g.35867595T>A GRCh38
NC_000005.9:g.35867697T>A , CM000667.1:g.35867697T>A GRCh37
NC_000005.8:g.35903454T>A NCBI36
NG_009567.1:g.15707T>A , LRG_74:g.15707T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.379+132T>A MANE Select ENSP00000306157.3:n.379+132T>A
ENST00000303115.7:c.379+132T>A ENSP00000306157.3:n.379+132T>A
ENST00000506850.5:c.379+132T>A ENSP00000421207.1:n.379+132T>A
ENST00000511982.1:c.*58T>A ENSP00000425309.1:n.*58T>A
ENST00000514217.5:c.379+132T>A ENSP00000427688.1:n.379+132T>A
NM_002185.3:c.379+132T>A NP_002176.2:n.379+132T>A
NR_120485.1:n.482+132T>A
XM_005248299.2:c.379+132T>A XP_005248356.1:n.379+132T>A
XM_005248300.1:c.379+132T>A XP_005248357.1:n.379+132T>A
XM_011514037.1:c.379+132T>A XP_011512339.1:n.379+132T>A
NM_002185.4:c.379+132T>A NP_002176.2:n.379+132T>A
NR_120485.2:n.508+132T>A
XM_005248299.4:c.379+132T>A XP_005248356.1:n.379+132T>A
NM_002185.5:c.379+132T>A MANE Select NP_002176.2:n.379+132T>A
NR_120485.3:n.466+132T>A