Canonical Allele Identifier: CA359430563

Gene: IL7R

Linked Data

• dbSNP Id: rs1760123299
• gnomAD v3: 5-35873493-C-G
• gnomAD v4: 5-35873493-C-G
• MyVariant Identifiers: chr5:g.35873595C>G (hg19) ; chr5:g.35873493C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35873493C>G , CM000667.2:g.35873493C>G	GRCh38
NC_000005.9:g.35873595C>G , CM000667.1:g.35873595C>G	GRCh37
NC_000005.8:g.35909352C>G	NCBI36
NG_009567.1:g.21605C>G , LRG_74:g.21605C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000303115.8:c.551C>G MANE Select	ENSP00000306157.3:p.Ser184Cys
ENST00000303115.7:c.551C>G	ENSP00000306157.3:p.Ser184Cys
ENST00000506850.5:c.551C>G	ENSP00000421207.1:p.Ser184Cys
ENST00000509668.1:n.293C>G
ENST00000514217.5:c.538-2019C>G	ENSP00000427688.1:n.538-2019C>G
NM_002185.3:c.551C>G	NP_002176.2:p.Ser184Cys
NR_120485.1:n.641-2019C>G
XM_005248299.2:c.551C>G	XP_005248356.1:p.Ser184Cys
XM_005248300.1:c.551C>G	XP_005248357.1:p.Ser184Cys
XM_011514037.1:c.551C>G	XP_011512339.1:p.Ser184Cys
NM_002185.4:c.551C>G	NP_002176.2:p.Ser184Cys
NR_120485.2:n.667-2019C>G
XM_005248299.4:c.551C>G	XP_005248356.1:p.Ser184Cys
NM_002185.5:c.551C>G MANE Select	NP_002176.2:p.Ser184Cys
NR_120485.3:n.625-2019C>G