Canonical Allele Identifier: CA3231933

Gene: IL7R

Linked Data

• ClinVar Variation Id: 907132
• ClinVar RCV Id: RCV001156759
• dbSNP Id: rs111370546
• ExAC: 5:35867573 G / A
• gnomAD v2: 5-35867573-G-A
• gnomAD v3: 5-35867471-G-A
• gnomAD v4: 5-35867471-G-A
• MyVariant Identifiers: chr5:g.35867573G>A (hg19) ; chr5:g.35867471G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35867471G>A , CM000667.2:g.35867471G>A	GRCh38
NC_000005.9:g.35867573G>A , CM000667.1:g.35867573G>A	GRCh37
NC_000005.8:g.35903330G>A	NCBI36
NG_009567.1:g.15583G>A , LRG_74:g.15583G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303115.8:c.379+8G>A MANE Select	ENSP00000306157.3:n.379+8G>A
ENST00000303115.7:c.379+8G>A	ENSP00000306157.3:n.379+8G>A
ENST00000506850.5:c.379+8G>A	ENSP00000421207.1:n.379+8G>A
ENST00000511982.1:c.387G>A	ENSP00000425309.1:p.Lys129=
ENST00000514217.5:c.379+8G>A	ENSP00000427688.1:n.379+8G>A
NM_002185.3:c.379+8G>A	NP_002176.2:n.379+8G>A
NR_120485.1:n.482+8G>A
XM_005248299.2:c.379+8G>A	XP_005248356.1:n.379+8G>A
XM_005248300.1:c.379+8G>A	XP_005248357.1:n.379+8G>A
XM_011514037.1:c.379+8G>A	XP_011512339.1:n.379+8G>A
NM_002185.4:c.379+8G>A	NP_002176.2:n.379+8G>A
NR_120485.2:n.508+8G>A
XM_005248299.4:c.379+8G>A	XP_005248356.1:n.379+8G>A
NM_002185.5:c.379+8G>A MANE Select	NP_002176.2:n.379+8G>A
NR_120485.3:n.466+8G>A