Canonical Allele Identifier: CA124399
Gene: IL7R HGNC NCBI

Linked Data

ClinVar Variation Id: 14843
ClinVar RCV Id: RCV000015968
dbSNP Id: rs104893894
ExAC: 5:35871172 C / T
gnomAD v2: 5-35871172-C-T
gnomAD v4: 5-35871070-C-T
COSMIC: COSM3615740
MyVariant Identifiers: chr5:g.35871172C>T (hg19) chr5:g.35871070C>T (hg38)
ERepo: CA124399/MONDO:0012163/119
PubMed: PMID:11023514
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35871070C>T , CM000667.2:g.35871070C>T GRCh38
NC_000005.9:g.35871172C>T , CM000667.1:g.35871172C>T GRCh37
NC_000005.8:g.35906929C>T NCBI36
NG_009567.1:g.19182C>T , LRG_74:g.19182C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.394C>T MANE Select ENSP00000306157.3:p.Pro132Ser
ENST00000303115.7:c.394C>T ENSP00000306157.3:p.Pro132Ser
ENST00000506850.5:c.394C>T ENSP00000421207.1:p.Pro132Ser
ENST00000514217.5:c.394C>T ENSP00000427688.1:p.Pro132Ser
NM_002185.3:c.394C>T NP_002176.2:p.Pro132Ser
NR_120485.1:n.497C>T
XM_005248299.2:c.394C>T XP_005248356.1:p.Pro132Ser
XM_005248300.1:c.394C>T XP_005248357.1:p.Pro132Ser
XM_011514037.1:c.394C>T XP_011512339.1:p.Pro132Ser
NM_002185.4:c.394C>T NP_002176.2:p.Pro132Ser
NR_120485.2:n.523C>T
XM_005248299.4:c.394C>T XP_005248356.1:p.Pro132Ser
NM_002185.5:c.394C>T MANE Select NP_002176.2:p.Pro132Ser
NR_120485.3:n.481C>T
Search 100 bp 5'
Search 100 bp 3'