Canonical Allele Identifier: CA359425853
Gene: IL7R HGNC NCBI

Linked Data

ClinVar Variation Id: 1683587
ClinVar RCV Id: RCV002244108
dbSNP Id: rs1759661333
gnomAD v4: 5-35857018-T-C
MyVariant Identifiers: chr5:g.35857120T>C (hg19) chr5:g.35857018T>C (hg38)
ERepo: CA359425853/MONDO:0012163/119
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35857018T>C , CM000667.2:g.35857018T>C GRCh38
NC_000005.9:g.35857120T>C , CM000667.1:g.35857120T>C GRCh37
NC_000005.8:g.35892877T>C NCBI36
NG_009567.1:g.5130T>C , LRG_74:g.5130T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.41T>C MANE Select ENSP00000306157.3:p.Leu14Ser
ENST00000303115.7:c.41T>C ENSP00000306157.3:p.Leu14Ser
ENST00000506850.5:c.41T>C ENSP00000421207.1:p.Leu14Ser
ENST00000508941.5:c.41T>C ENSP00000426426.1:p.Leu14Ser
ENST00000511031.1:n.217-3834T>C
ENST00000511982.1:c.41T>C ENSP00000425309.1:p.Leu14Ser
ENST00000514217.5:c.41T>C ENSP00000427688.1:p.Leu14Ser
ENST00000515665.1:c.41T>C ENSP00000425538.1:p.Leu14Ser
NM_002185.3:c.41T>C NP_002176.2:p.Leu14Ser
NR_120485.1:n.144T>C
XM_005248299.2:c.41T>C XP_005248356.1:p.Leu14Ser
XM_005248300.1:c.41T>C XP_005248357.1:p.Leu14Ser
XM_011514037.1:c.41T>C XP_011512339.1:p.Leu14Ser
NM_002185.4:c.41T>C NP_002176.2:p.Leu14Ser
NR_120485.2:n.170T>C
XM_005248299.4:c.41T>C XP_005248356.1:p.Leu14Ser
XR_001742635.1:n.1533+1849A>G
NM_002185.5:c.41T>C MANE Select NP_002176.2:p.Leu14Ser
NR_120485.3:n.128T>C
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