Canonical Allele Identifier: CA3232026
Gene: IL7R HGNC NCBI

Linked Data

ClinVar Variation Id: 2832058
ClinVar RCV Id: RCV003628223
dbSNP Id: rs748733640
gnomAD v2: 5-35873596-C-G
gnomAD v4: 5-35873494-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35873494C>G , CM000667.2:g.35873494C>G GRCh38
NC_000005.9:g.35873596C>G , CM000667.1:g.35873596C>G GRCh37
NC_000005.8:g.35909353C>G NCBI36
NG_009567.1:g.21606C>G , LRG_74:g.21606C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000303115.8:c.552C>G MANE Select ENSP00000306157.3:p.Ser184=
ENST00000303115.7:c.552C>G ENSP00000306157.3:p.Ser184=
ENST00000506850.5:c.552C>G ENSP00000421207.1:p.Ser184=
ENST00000509668.1:n.294C>G
ENST00000514217.5:c.538-2018C>G ENSP00000427688.1:n.538-2018C>G
NM_002185.3:c.552C>G NP_002176.2:p.Ser184=
NR_120485.1:n.641-2018C>G
XM_005248299.2:c.552C>G XP_005248356.1:p.Ser184=
XM_005248300.1:c.552C>G XP_005248357.1:p.Ser184=
XM_011514037.1:c.552C>G XP_011512339.1:p.Ser184=
NM_002185.4:c.552C>G NP_002176.2:p.Ser184=
NR_120485.2:n.667-2018C>G
XM_005248299.4:c.552C>G XP_005248356.1:p.Ser184=
NM_002185.5:c.552C>G MANE Select NP_002176.2:p.Ser184=
NR_120485.3:n.625-2018C>G