Canonical Allele Identifier: CA444093331

Gene: IL7R

Linked Data

• ClinVar Variation Id: 2844863
• ClinVar RCV Id: RCV003628449
• MyVariant Identifiers: chr5:g.35867555A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35867453A>C , CM000667.2:g.35867453A>C	GRCh38
NC_000005.9:g.35867555A>C , CM000667.1:g.35867555A>C	GRCh37
NC_000005.8:g.35903312A>C	NCBI36
NG_009567.1:g.15565A>C , LRG_74:g.15565A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303115.8:c.369A>C MANE Select	ENSP00000306157.3:p.Leu123=
ENST00000303115.7:c.369A>C	ENSP00000306157.3:p.Leu123=
ENST00000506850.5:c.369A>C	ENSP00000421207.1:p.Leu123=
ENST00000511031.1:n.503A>C
ENST00000511982.1:c.369A>C	ENSP00000425309.1:p.Leu123=
ENST00000514217.5:c.369A>C	ENSP00000427688.1:p.Leu123=
NM_002185.3:c.369A>C	NP_002176.2:p.Leu123=
NR_120485.1:n.472A>C
XM_005248299.2:c.369A>C	XP_005248356.1:p.Leu123=
XM_005248300.1:c.369A>C	XP_005248357.1:p.Leu123=
XM_011514037.1:c.369A>C	XP_011512339.1:p.Leu123=
NM_002185.4:c.369A>C	NP_002176.2:p.Leu123=
NR_120485.2:n.498A>C
XM_005248299.4:c.369A>C	XP_005248356.1:p.Leu123=
NM_002185.5:c.369A>C MANE Select	NP_002176.2:p.Leu123=
NR_120485.3:n.456A>C