Canonical Allele Identifier: CA116967467

Gene: IL7R

Linked Data

• ClinVar Variation Id: 1573040
• ClinVar RCV Id: RCV002215749
• dbSNP Id: rs111370546
• gnomAD v4: 5-35867471-G-C
• MyVariant Identifiers: chr5:g.35867573G>C (hg19) ; chr5:g.35867471G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35867471G>C , CM000667.2:g.35867471G>C	GRCh38
NC_000005.9:g.35867573G>C , CM000667.1:g.35867573G>C	GRCh37
NC_000005.8:g.35903330G>C	NCBI36
NG_009567.1:g.15583G>C , LRG_74:g.15583G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303115.8:c.379+8G>C MANE Select	ENSP00000306157.3:n.379+8G>C
ENST00000303115.7:c.379+8G>C	ENSP00000306157.3:n.379+8G>C
ENST00000506850.5:c.379+8G>C	ENSP00000421207.1:n.379+8G>C
ENST00000511982.1:c.387G>C	ENSP00000425309.1:p.Lys129Asn
ENST00000514217.5:c.379+8G>C	ENSP00000427688.1:n.379+8G>C
NM_002185.3:c.379+8G>C	NP_002176.2:n.379+8G>C
NR_120485.1:n.482+8G>C
XM_005248299.2:c.379+8G>C	XP_005248356.1:n.379+8G>C
XM_005248300.1:c.379+8G>C	XP_005248357.1:n.379+8G>C
XM_011514037.1:c.379+8G>C	XP_011512339.1:n.379+8G>C
NM_002185.4:c.379+8G>C	NP_002176.2:n.379+8G>C
NR_120485.2:n.508+8G>C
XM_005248299.4:c.379+8G>C	XP_005248356.1:n.379+8G>C
NM_002185.5:c.379+8G>C MANE Select	NP_002176.2:n.379+8G>C
NR_120485.3:n.466+8G>C