Canonical Allele Identifier: CA124393

Gene: IL7R

Linked Data

• ClinVar Variation Id: 14840
• ClinVar RCV Id: RCV000015965 ; RCV000121214 ; RCV001711072
• dbSNP Id: rs1494555
• ExAC: 5:35871190 G / A
• gnomAD v2: 5-35871190-G-A
• gnomAD v3: 5-35871088-G-A
• gnomAD v4: 5-35871088-G-A
• MyVariant Identifiers: chr5:g.35871190G>A (hg19) ; chr5:g.35871088G>A (hg38)
• ERepo: CA124393/MONDO:0012163/119
• PubMed: PMID:9843216 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35871088G>A , CM000667.2:g.35871088G>A	GRCh38
NC_000005.9:g.35871190G>A , CM000667.1:g.35871190G>A	GRCh37
NC_000005.8:g.35906947G>A	NCBI36
NG_009567.1:g.19200G>A , LRG_74:g.19200G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303115.8:c.412G>A MANE Select	ENSP00000306157.3:p.Val138Ile
ENST00000303115.7:c.412G>A	ENSP00000306157.3:p.Val138Ile
ENST00000506850.5:c.412G>A	ENSP00000421207.1:p.Val138Ile
ENST00000514217.5:c.412G>A	ENSP00000427688.1:p.Val138Ile
NM_002185.3:c.412G>A	NP_002176.2:p.Val138Ile
NR_120485.1:n.515G>A
XM_005248299.2:c.412G>A	XP_005248356.1:p.Val138Ile
XM_005248300.1:c.412G>A	XP_005248357.1:p.Val138Ile
XM_011514037.1:c.412G>A	XP_011512339.1:p.Val138Ile
NM_002185.4:c.412G>A	NP_002176.2:p.Val138Ile
NR_120485.2:n.541G>A
XM_005248299.4:c.412G>A	XP_005248356.1:p.Val138Ile
NM_002185.5:c.412G>A MANE Select	NP_002176.2:p.Val138Ile
NR_120485.3:n.499G>A