Canonical Allele Identifier: CA3232025

Gene: IL7R

Linked Data

• ClinVar Variation Id: 1621426
• ClinVar RCV Id: RCV002094146
• dbSNP Id: rs748733640
• ExAC: 5:35873596 C / T
• gnomAD v2: 5-35873596-C-T
• gnomAD v3: 5-35873494-C-T
• gnomAD v4: 5-35873494-C-T
• MyVariant Identifiers: chr5:g.35873596C>T (hg19) ; chr5:g.35873494C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35873494C>T , CM000667.2:g.35873494C>T	GRCh38
NC_000005.9:g.35873596C>T , CM000667.1:g.35873596C>T	GRCh37
NC_000005.8:g.35909353C>T	NCBI36
NG_009567.1:g.21606C>T , LRG_74:g.21606C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000303115.8:c.552C>T MANE Select	ENSP00000306157.3:p.Ser184=
ENST00000303115.7:c.552C>T	ENSP00000306157.3:p.Ser184=
ENST00000506850.5:c.552C>T	ENSP00000421207.1:p.Ser184=
ENST00000509668.1:n.294C>T
ENST00000514217.5:c.538-2018C>T	ENSP00000427688.1:n.538-2018C>T
NM_002185.3:c.552C>T	NP_002176.2:p.Ser184=
NR_120485.1:n.641-2018C>T
XM_005248299.2:c.552C>T	XP_005248356.1:p.Ser184=
XM_005248300.1:c.552C>T	XP_005248357.1:p.Ser184=
XM_011514037.1:c.552C>T	XP_011512339.1:p.Ser184=
NM_002185.4:c.552C>T	NP_002176.2:p.Ser184=
NR_120485.2:n.667-2018C>T
XM_005248299.4:c.552C>T	XP_005248356.1:p.Ser184=
NM_002185.5:c.552C>T MANE Select	NP_002176.2:p.Ser184=
NR_120485.3:n.625-2018C>T