Canonical Allele Identifier: CA3231939

Gene: IL7R

Linked Data

• dbSNP Id: rs777335756
• ExAC: 5:35867628 G / A
• gnomAD v2: 5-35867628-G-A
• gnomAD v4: 5-35867526-G-A
• MyVariant Identifiers: chr5:g.35867628G>A (hg19) ; chr5:g.35867526G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35867526G>A , CM000667.2:g.35867526G>A	GRCh38
NC_000005.9:g.35867628G>A , CM000667.1:g.35867628G>A	GRCh37
NC_000005.8:g.35903385G>A	NCBI36
NG_009567.1:g.15638G>A , LRG_74:g.15638G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303115.8:c.379+63G>A MANE Select	ENSP00000306157.3:n.379+63G>A
ENST00000303115.7:c.379+63G>A	ENSP00000306157.3:n.379+63G>A
ENST00000506850.5:c.379+63G>A	ENSP00000421207.1:n.379+63G>A
ENST00000511982.1:c.442G>A	ENSP00000425309.1:p.Asp148Asn
ENST00000514217.5:c.379+63G>A	ENSP00000427688.1:n.379+63G>A
NM_002185.3:c.379+63G>A	NP_002176.2:n.379+63G>A
NR_120485.1:n.482+63G>A
XM_005248299.2:c.379+63G>A	XP_005248356.1:n.379+63G>A
XM_005248300.1:c.379+63G>A	XP_005248357.1:n.379+63G>A
XM_011514037.1:c.379+63G>A	XP_011512339.1:n.379+63G>A
NM_002185.4:c.379+63G>A	NP_002176.2:n.379+63G>A
NR_120485.2:n.508+63G>A
XM_005248299.4:c.379+63G>A	XP_005248356.1:n.379+63G>A
NM_002185.5:c.379+63G>A MANE Select	NP_002176.2:n.379+63G>A
NR_120485.3:n.466+63G>A