Canonical Allele Identifier: CA116972690

Gene: IL7R

Linked Data

• dbSNP Id: rs868317020
• gnomAD v4: 5-35873506-G-A
• MyVariant Identifiers: chr5:g.35873608G>A (hg19) ; chr5:g.35873506G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35873506G>A , CM000667.2:g.35873506G>A	GRCh38
NC_000005.9:g.35873608G>A , CM000667.1:g.35873608G>A	GRCh37
NC_000005.8:g.35909365G>A	NCBI36
NG_009567.1:g.21618G>A , LRG_74:g.21618G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303115.8:c.564G>A MANE Select	ENSP00000306157.3:p.Leu188=
ENST00000303115.7:c.564G>A	ENSP00000306157.3:p.Leu188=
ENST00000506850.5:c.564G>A	ENSP00000421207.1:p.Leu188=
ENST00000509668.1:n.306G>A
ENST00000514217.5:c.538-2006G>A	ENSP00000427688.1:n.538-2006G>A
NM_002185.3:c.564G>A	NP_002176.2:p.Leu188=
NR_120485.1:n.641-2006G>A
XM_005248299.2:c.564G>A	XP_005248356.1:p.Leu188=
XM_005248300.1:c.564G>A	XP_005248357.1:p.Leu188=
XM_011514037.1:c.564G>A	XP_011512339.1:p.Leu188=
NM_002185.4:c.564G>A	NP_002176.2:p.Leu188=
NR_120485.2:n.667-2006G>A
XM_005248299.4:c.564G>A	XP_005248356.1:p.Leu188=
NM_002185.5:c.564G>A MANE Select	NP_002176.2:p.Leu188=
NR_120485.3:n.625-2006G>A