Canonical Allele Identifier: CA444093259

Gene: IL7R

Linked Data

• ClinVar Variation Id: 2843842
• ClinVar RCV Id: RCV003628430
• dbSNP Id: rs1259127614
• gnomAD v2: 5-35867484-T-C
• gnomAD v4: 5-35867382-T-C
• MyVariant Identifiers: chr5:g.35867484T>C (hg19) ; chr5:g.35867382T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35867382T>C , CM000667.2:g.35867382T>C	GRCh38
NC_000005.9:g.35867484T>C , CM000667.1:g.35867484T>C	GRCh37
NC_000005.8:g.35903241T>C	NCBI36
NG_009567.1:g.15494T>C , LRG_74:g.15494T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303115.8:c.298T>C MANE Select	ENSP00000306157.3:p.Leu100=
ENST00000303115.7:c.298T>C	ENSP00000306157.3:p.Leu100=
ENST00000506850.5:c.298T>C	ENSP00000421207.1:p.Leu100=
ENST00000511031.1:n.432T>C
ENST00000511982.1:c.298T>C	ENSP00000425309.1:p.Leu100=
ENST00000514217.5:c.298T>C	ENSP00000427688.1:p.Leu100=
NM_002185.3:c.298T>C	NP_002176.2:p.Leu100=
NR_120485.1:n.401T>C
XM_005248299.2:c.298T>C	XP_005248356.1:p.Leu100=
XM_005248300.1:c.298T>C	XP_005248357.1:p.Leu100=
XM_011514037.1:c.298T>C	XP_011512339.1:p.Leu100=
NM_002185.4:c.298T>C	NP_002176.2:p.Leu100=
NR_120485.2:n.427T>C
XM_005248299.4:c.298T>C	XP_005248356.1:p.Leu100=
NM_002185.5:c.298T>C MANE Select	NP_002176.2:p.Leu100=
NR_120485.3:n.385T>C