Canonical Allele Identifier: CA359430560

Gene: IL7R

Linked Data

• dbSNP Id: rs1254913003
• gnomAD v2: 5-35873594-T-C
• gnomAD v3: 5-35873492-T-C
• gnomAD v4: 5-35873492-T-C
• MyVariant Identifiers: chr5:g.35873594T>C (hg19) ; chr5:g.35873492T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35873492T>C , CM000667.2:g.35873492T>C	GRCh38
NC_000005.9:g.35873594T>C , CM000667.1:g.35873594T>C	GRCh37
NC_000005.8:g.35909351T>C	NCBI36
NG_009567.1:g.21604T>C , LRG_74:g.21604T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303115.8:c.550T>C MANE Select	ENSP00000306157.3:p.Ser184Pro
ENST00000303115.7:c.550T>C	ENSP00000306157.3:p.Ser184Pro
ENST00000506850.5:c.550T>C	ENSP00000421207.1:p.Ser184Pro
ENST00000509668.1:n.292T>C
ENST00000514217.5:c.538-2020T>C	ENSP00000427688.1:n.538-2020T>C
NM_002185.3:c.550T>C	NP_002176.2:p.Ser184Pro
NR_120485.1:n.641-2020T>C
XM_005248299.2:c.550T>C	XP_005248356.1:p.Ser184Pro
XM_005248300.1:c.550T>C	XP_005248357.1:p.Ser184Pro
XM_011514037.1:c.550T>C	XP_011512339.1:p.Ser184Pro
NM_002185.4:c.550T>C	NP_002176.2:p.Ser184Pro
NR_120485.2:n.667-2020T>C
XM_005248299.4:c.550T>C	XP_005248356.1:p.Ser184Pro
NM_002185.5:c.550T>C MANE Select	NP_002176.2:p.Ser184Pro
NR_120485.3:n.625-2020T>C