Canonical Allele Identifier: CA160084
Gene: IL7R HGNC NCBI

Linked Data

ClinVar Variation Id: 134523
ClinVar RCV Id: RCV000121210 RCV000819281 RCV000998367
dbSNP Id: rs138482569
ExAC: 5:35861023 C / T
gnomAD v2: 5-35861023-C-T
gnomAD v3: 5-35860921-C-T
gnomAD v4: 5-35860921-C-T
MyVariant Identifiers: chr5:g.35861023C>T (hg19) chr5:g.35860921C>T (hg38)
ERepo: CA160084/MONDO:0012163/119
PubMed: PMID:24728327
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35860921C>T , CM000667.2:g.35860921C>T GRCh38
NC_000005.9:g.35861023C>T , CM000667.1:g.35861023C>T GRCh37
NC_000005.8:g.35896780C>T NCBI36
NG_009567.1:g.9033C>T , LRG_74:g.9033C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.152C>T MANE Select ENSP00000306157.3:p.Ser51Leu
ENST00000303115.7:c.152C>T ENSP00000306157.3:p.Ser51Leu
ENST00000506850.5:c.152C>T ENSP00000421207.1:p.Ser51Leu
ENST00000508941.5:c.152C>T ENSP00000426426.1:p.Ser51Leu
ENST00000511031.1:n.286C>T
ENST00000511982.1:c.152C>T ENSP00000425309.1:p.Ser51Leu
ENST00000514217.5:c.152C>T ENSP00000427688.1:p.Ser51Leu
ENST00000515665.1:c.152C>T ENSP00000425538.1:p.Ser51Leu
NM_002185.3:c.152C>T NP_002176.2:p.Ser51Leu
NR_120485.1:n.255C>T
XM_005248299.2:c.152C>T XP_005248356.1:p.Ser51Leu
XM_005248300.1:c.152C>T XP_005248357.1:p.Ser51Leu
XM_011514037.1:c.152C>T XP_011512339.1:p.Ser51Leu
NM_002185.4:c.152C>T NP_002176.2:p.Ser51Leu
NR_120485.2:n.281C>T
XM_005248299.4:c.152C>T XP_005248356.1:p.Ser51Leu
NM_002185.5:c.152C>T MANE Select NP_002176.2:p.Ser51Leu
NR_120485.3:n.239C>T
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