Canonical Allele Identifier: CA3231917

Gene: IL7R

Linked Data

• dbSNP Id: rs548638151
• ExAC: 5:35867518 T / C
• gnomAD v2: 5-35867518-T-C
• gnomAD v3: 5-35867416-T-C
• gnomAD v4: 5-35867416-T-C
• MyVariant Identifiers: chr5:g.35867518T>C (hg19) ; chr5:g.35867416T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35867416T>C , CM000667.2:g.35867416T>C	GRCh38
NC_000005.9:g.35867518T>C , CM000667.1:g.35867518T>C	GRCh37
NC_000005.8:g.35903275T>C	NCBI36
NG_009567.1:g.15528T>C , LRG_74:g.15528T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303115.8:c.332T>C MANE Select	ENSP00000306157.3:p.Val111Ala
ENST00000303115.7:c.332T>C	ENSP00000306157.3:p.Val111Ala
ENST00000506850.5:c.332T>C	ENSP00000421207.1:p.Val111Ala
ENST00000511031.1:n.466T>C
ENST00000511982.1:c.332T>C	ENSP00000425309.1:p.Val111Ala
ENST00000514217.5:c.332T>C	ENSP00000427688.1:p.Val111Ala
NM_002185.3:c.332T>C	NP_002176.2:p.Val111Ala
NR_120485.1:n.435T>C
XM_005248299.2:c.332T>C	XP_005248356.1:p.Val111Ala
XM_005248300.1:c.332T>C	XP_005248357.1:p.Val111Ala
XM_011514037.1:c.332T>C	XP_011512339.1:p.Val111Ala
NM_002185.4:c.332T>C	NP_002176.2:p.Val111Ala
NR_120485.2:n.461T>C
XM_005248299.4:c.332T>C	XP_005248356.1:p.Val111Ala
NM_002185.5:c.332T>C MANE Select	NP_002176.2:p.Val111Ala
NR_120485.3:n.419T>C