Canonical Allele Identifier: CA915115749

Gene: IL7R

Linked Data

• dbSNP Id: rs1286806686
• gnomAD v2: 5-35867694-T-G
• gnomAD v3: 5-35867592-T-G
• gnomAD v4: 5-35867592-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35867592T>G , CM000667.2:g.35867592T>G	GRCh38
NC_000005.9:g.35867694T>G , CM000667.1:g.35867694T>G	GRCh37
NC_000005.8:g.35903451T>G	NCBI36
NG_009567.1:g.15704T>G , LRG_74:g.15704T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303115.8:c.379+129T>G MANE Select	ENSP00000306157.3:n.379+129T>G
ENST00000303115.7:c.379+129T>G	ENSP00000306157.3:n.379+129T>G
ENST00000506850.5:c.379+129T>G	ENSP00000421207.1:n.379+129T>G
ENST00000511982.1:c.*55T>G	ENSP00000425309.1:n.*55T>G
ENST00000514217.5:c.379+129T>G	ENSP00000427688.1:n.379+129T>G
NM_002185.3:c.379+129T>G	NP_002176.2:n.379+129T>G
NR_120485.1:n.482+129T>G
XM_005248299.2:c.379+129T>G	XP_005248356.1:n.379+129T>G
XM_005248300.1:c.379+129T>G	XP_005248357.1:n.379+129T>G
XM_011514037.1:c.379+129T>G	XP_011512339.1:n.379+129T>G
NM_002185.4:c.379+129T>G	NP_002176.2:n.379+129T>G
NR_120485.2:n.508+129T>G
XM_005248299.4:c.379+129T>G	XP_005248356.1:n.379+129T>G
NM_002185.5:c.379+129T>G MANE Select	NP_002176.2:n.379+129T>G
NR_120485.3:n.466+129T>G