Canonical Allele Identifier: CA3231921

Gene: IL7R

Linked Data

• ClinVar Variation Id: 647548
• ClinVar RCV Id: RCV000802077 ; RCV003279078
• dbSNP Id: rs771667604
• ExAC: 5:35867526 A / G
• gnomAD v2: 5-35867526-A-G
• gnomAD v3: 5-35867424-A-G
• gnomAD v4: 5-35867424-A-G
• MyVariant Identifiers: chr5:g.35867526A>G (hg19) ; chr5:g.35867424A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35867424A>G , CM000667.2:g.35867424A>G	GRCh38
NC_000005.9:g.35867526A>G , CM000667.1:g.35867526A>G	GRCh37
NC_000005.8:g.35903283A>G	NCBI36
NG_009567.1:g.15536A>G , LRG_74:g.15536A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303115.8:c.340A>G MANE Select	ENSP00000306157.3:p.Lys114Glu
ENST00000303115.7:c.340A>G	ENSP00000306157.3:p.Lys114Glu
ENST00000506850.5:c.340A>G	ENSP00000421207.1:p.Lys114Glu
ENST00000511031.1:n.474A>G
ENST00000511982.1:c.340A>G	ENSP00000425309.1:p.Lys114Glu
ENST00000514217.5:c.340A>G	ENSP00000427688.1:p.Lys114Glu
NM_002185.3:c.340A>G	NP_002176.2:p.Lys114Glu
NR_120485.1:n.443A>G
XM_005248299.2:c.340A>G	XP_005248356.1:p.Lys114Glu
XM_005248300.1:c.340A>G	XP_005248357.1:p.Lys114Glu
XM_011514037.1:c.340A>G	XP_011512339.1:p.Lys114Glu
NM_002185.4:c.340A>G	NP_002176.2:p.Lys114Glu
NR_120485.2:n.469A>G
XM_005248299.4:c.340A>G	XP_005248356.1:p.Lys114Glu
NM_002185.5:c.340A>G MANE Select	NP_002176.2:p.Lys114Glu
NR_120485.3:n.427A>G