Canonical Allele Identifier: CA559294577

Gene: IL7R

Linked Data

• dbSNP Id: rs1390613883
• gnomAD v2: 5-35867665-C-A
• gnomAD v3: 5-35867563-C-A
• gnomAD v4: 5-35867563-C-A
• MyVariant Identifiers: chr5:g.35867665C>A (hg19) ; chr5:g.35867563C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35867563C>A , CM000667.2:g.35867563C>A	GRCh38
NC_000005.9:g.35867665C>A , CM000667.1:g.35867665C>A	GRCh37
NC_000005.8:g.35903422C>A	NCBI36
NG_009567.1:g.15675C>A , LRG_74:g.15675C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303115.8:c.379+100C>A MANE Select	ENSP00000306157.3:n.379+100C>A
ENST00000303115.7:c.379+100C>A	ENSP00000306157.3:n.379+100C>A
ENST00000506850.5:c.379+100C>A	ENSP00000421207.1:n.379+100C>A
ENST00000511982.1:c.*26C>A	ENSP00000425309.1:n.*26C>A
ENST00000514217.5:c.379+100C>A	ENSP00000427688.1:n.379+100C>A
NM_002185.3:c.379+100C>A	NP_002176.2:n.379+100C>A
NR_120485.1:n.482+100C>A
XM_005248299.2:c.379+100C>A	XP_005248356.1:n.379+100C>A
XM_005248300.1:c.379+100C>A	XP_005248357.1:n.379+100C>A
XM_011514037.1:c.379+100C>A	XP_011512339.1:n.379+100C>A
NM_002185.4:c.379+100C>A	NP_002176.2:n.379+100C>A
NR_120485.2:n.508+100C>A
XM_005248299.4:c.379+100C>A	XP_005248356.1:n.379+100C>A
NM_002185.5:c.379+100C>A MANE Select	NP_002176.2:n.379+100C>A
NR_120485.3:n.466+100C>A