Canonical Allele Identifier: CA3231944

Gene: IL7R

Linked Data

• dbSNP Id: rs769567534
• ExAC: 5:35867656 T / G
• gnomAD v2: 5-35867656-T-G
• gnomAD v4: 5-35867554-T-G
• MyVariant Identifiers: chr5:g.35867656T>G (hg19) ; chr5:g.35867554T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35867554T>G , CM000667.2:g.35867554T>G	GRCh38
NC_000005.9:g.35867656T>G , CM000667.1:g.35867656T>G	GRCh37
NC_000005.8:g.35903413T>G	NCBI36
NG_009567.1:g.15666T>G , LRG_74:g.15666T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303115.8:c.379+91T>G MANE Select	ENSP00000306157.3:n.379+91T>G
ENST00000303115.7:c.379+91T>G	ENSP00000306157.3:n.379+91T>G
ENST00000506850.5:c.379+91T>G	ENSP00000421207.1:n.379+91T>G
ENST00000511982.1:c.*17T>G	ENSP00000425309.1:n.*17T>G
ENST00000514217.5:c.379+91T>G	ENSP00000427688.1:n.379+91T>G
NM_002185.3:c.379+91T>G	NP_002176.2:n.379+91T>G
NR_120485.1:n.482+91T>G
XM_005248299.2:c.379+91T>G	XP_005248356.1:n.379+91T>G
XM_005248300.1:c.379+91T>G	XP_005248357.1:n.379+91T>G
XM_011514037.1:c.379+91T>G	XP_011512339.1:n.379+91T>G
NM_002185.4:c.379+91T>G	NP_002176.2:n.379+91T>G
NR_120485.2:n.508+91T>G
XM_005248299.4:c.379+91T>G	XP_005248356.1:n.379+91T>G
NM_002185.5:c.379+91T>G MANE Select	NP_002176.2:n.379+91T>G
NR_120485.3:n.466+91T>G