Canonical Allele Identifier: CA291245

Gene: IL7R

Linked Data

• ClinVar Variation Id: 137587
• ClinVar RCV Id: RCV000125414 ; RCV000558840 ; RCV003915254
• dbSNP Id: rs11567764
• ExAC: 5:35873605 G / A
• gnomAD v2: 5-35873605-G-A
• gnomAD v3: 5-35873503-G-A
• gnomAD v4: 5-35873503-G-A
• MyVariant Identifiers: chr5:g.35873605G>A (hg19) ; chr5:g.35873605_35873606delinsAC (hg19) ; chr5:g.35873503G>A (hg38) ; chr5:g.35873503_35873504delinsAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35873503G>A , CM000667.2:g.35873503G>A	GRCh38
NC_000005.9:g.35873605G>A , CM000667.1:g.35873605G>A	GRCh37
NC_000005.8:g.35909362G>A	NCBI36
NG_009567.1:g.21615G>A , LRG_74:g.21615G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303115.8:c.561G>A MANE Select	ENSP00000306157.3:p.Lys187=
ENST00000303115.7:c.561G>A	ENSP00000306157.3:p.Lys187=
ENST00000506850.5:c.561G>A	ENSP00000421207.1:p.Lys187=
ENST00000509668.1:n.303G>A
ENST00000514217.5:c.538-2009G>A	ENSP00000427688.1:n.538-2009G>A
NM_002185.3:c.561G>A	NP_002176.2:p.Lys187=
NR_120485.1:n.641-2009G>A
XM_005248299.2:c.561G>A	XP_005248356.1:p.Lys187=
XM_005248300.1:c.561G>A	XP_005248357.1:p.Lys187=
XM_011514037.1:c.561G>A	XP_011512339.1:p.Lys187=
NM_002185.4:c.561G>A	NP_002176.2:p.Lys187=
NR_120485.2:n.667-2009G>A
XM_005248299.4:c.561G>A	XP_005248356.1:p.Lys187=
NM_002185.5:c.561G>A MANE Select	NP_002176.2:p.Lys187=
NR_120485.3:n.625-2009G>A