Canonical Allele Identifier: CA214046
Gene: IL7R HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.35873481A>C
GRCh37 chr5:g.35873583A>C
Revel Score:
ENST00000303115 (MANE Select) 0.256
ENST00000343305 0.256
ENST00000506850 0.256
gnomAD v2:
5:35873583 A / C
gnomAD v3:
5:35873481 A / C
gnomAD v4:
chr5-35873481-A-C
Joint Max Group AF 0.00016624 (AMR)
Exomes Max Group AF 0.00020654 (AMR)
ClinVar RCV:
RCV000030062
RCV001852596
ClinVar Variation:
36393
dbSNP:
193922642
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35873481A>C , CM000667.2:g.35873481A>C GRCh38
NC_000005.9:g.35873583A>C , CM000667.1:g.35873583A>C GRCh37
NC_000005.8:g.35909340A>C NCBI36
NG_009567.1:g.21593A>C , LRG_74:g.21593A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.539A>C MANE Select ENSP00000306157.3:p.His180Pro
ENST00000303115.7:c.539A>C ENSP00000306157.3:p.His180Pro
ENST00000506850.5:c.539A>C ENSP00000421207.1:p.His180Pro
ENST00000509668.1:n.281A>C
ENST00000514217.5:c.538-2031A>C ENSP00000427688.1:n.538-2031A>C
NM_002185.3:c.539A>C NP_002176.2:p.His180Pro
NR_120485.1:n.641-2031A>C
XM_005248299.2:c.539A>C XP_005248356.1:p.His180Pro
XM_005248300.1:c.539A>C XP_005248357.1:p.His180Pro
XM_011514037.1:c.539A>C XP_011512339.1:p.His180Pro
NM_002185.4:c.539A>C NP_002176.2:p.His180Pro
NR_120485.2:n.667-2031A>C
XM_005248299.4:c.539A>C XP_005248356.1:p.His180Pro
NM_002185.5:c.539A>C MANE Select NP_002176.2:p.His180Pro
NR_120485.3:n.625-2031A>C
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