Canonical Allele Identifier: CA3232052

Gene: IL7R

Linked Data

• dbSNP Id: rs201897242
• ExAC: 5:35873746 C / A
• gnomAD v2: 5-35873746-C-A
• gnomAD v4: 5-35873644-C-A
• MyVariant Identifiers: chr5:g.35873746C>A (hg19) ; chr5:g.35873644C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35873644C>A , CM000667.2:g.35873644C>A	GRCh38
NC_000005.9:g.35873746C>A , CM000667.1:g.35873746C>A	GRCh37
NC_000005.8:g.35909503C>A	NCBI36
NG_009567.1:g.21756C>A , LRG_74:g.21756C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303115.8:c.702C>A MANE Select	ENSP00000306157.3:p.Ser234Arg
ENST00000303115.7:c.702C>A	ENSP00000306157.3:p.Ser234Arg
ENST00000505093.1:c.111C>A	ENSP00000426069.1:p.Ser37Arg
ENST00000506850.5:c.702C>A	ENSP00000421207.1:p.Ser234Arg
ENST00000509668.1:n.444C>A
ENST00000514217.5:c.538-1868C>A	ENSP00000427688.1:n.538-1868C>A
NM_002185.3:c.702C>A	NP_002176.2:p.Ser234Arg
NR_120485.1:n.641-1868C>A
XM_005248299.2:c.702C>A	XP_005248356.1:p.Ser234Arg
XM_005248300.1:c.702C>A	XP_005248357.1:p.Ser234Arg
XM_011514037.1:c.702C>A	XP_011512339.1:p.Ser234Arg
NM_002185.4:c.702C>A	NP_002176.2:p.Ser234Arg
NR_120485.2:n.667-1868C>A
XM_005248299.4:c.702C>A	XP_005248356.1:p.Ser234Arg
NM_002185.5:c.702C>A MANE Select	NP_002176.2:p.Ser234Arg
NR_120485.3:n.625-1868C>A