Canonical Allele Identifier: CA3231824

Gene: IL7R

Linked Data

• ClinVar Variation Id: 533060
• ClinVar RCV Id: RCV000640057
• dbSNP Id: rs753451294
• ExAC: 5:35857160 T / A
• gnomAD v2: 5-35857160-T-A
• gnomAD v4: 5-35857058-T-A
• MyVariant Identifiers: chr5:g.35857160T>A (hg19) ; chr5:g.35857058T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35857058T>A , CM000667.2:g.35857058T>A	GRCh38
NC_000005.9:g.35857160T>A , CM000667.1:g.35857160T>A	GRCh37
NC_000005.8:g.35892917T>A	NCBI36
NG_009567.1:g.5170T>A , LRG_74:g.5170T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303115.8:c.81T>A MANE Select	ENSP00000306157.3:p.Asn27Lys
ENST00000303115.7:c.81T>A	ENSP00000306157.3:p.Asn27Lys
ENST00000506850.5:c.81T>A	ENSP00000421207.1:p.Asn27Lys
ENST00000508941.5:c.81T>A	ENSP00000426426.1:p.Asn27Lys
ENST00000511031.1:n.217-3794T>A
ENST00000511982.1:c.81T>A	ENSP00000425309.1:p.Asn27Lys
ENST00000514217.5:c.81T>A	ENSP00000427688.1:p.Asn27Lys
ENST00000515665.1:c.81T>A	ENSP00000425538.1:p.Asn27Lys
NM_002185.3:c.81T>A	NP_002176.2:p.Asn27Lys
NR_120485.1:n.184T>A
XM_005248299.2:c.81T>A	XP_005248356.1:p.Asn27Lys
XM_005248300.1:c.81T>A	XP_005248357.1:p.Asn27Lys
XM_011514037.1:c.81T>A	XP_011512339.1:p.Asn27Lys
NM_002185.4:c.81T>A	NP_002176.2:p.Asn27Lys
NR_120485.2:n.210T>A
XM_005248299.4:c.81T>A	XP_005248356.1:p.Asn27Lys
XR_001742635.1:n.1533+1809A>T
NM_002185.5:c.81T>A MANE Select	NP_002176.2:p.Asn27Lys
NR_120485.3:n.168T>A