Canonical Allele Identifier: CA359431210
Community Standard Title: NM_002185.5(IL7R):c.704C>G (p.Ser235Ter)
Gene: IL7R HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35873646C>G , CM000667.2:g.35873646C>G GRCh38
NC_000005.9:g.35873748C>G , CM000667.1:g.35873748C>G GRCh37
NC_000005.8:g.35909505C>G NCBI36
NG_009567.1:g.21758C>G , LRG_74:g.21758C>G

Transcript Alleles

HGVS Amino-acid Change
NM_002185.5:c.704C>G MANE Select NP_002176.2:p.Ser235Ter
ENST00000303115.8:c.704C>G MANE Select ENSP00000306157.3:p.Ser235Ter
NM_002185.3:c.704C>G NP_002176.2:p.Ser235Ter
NM_002185.4:c.704C>G NP_002176.2:p.Ser235Ter
NR_120485.1:n.641-1866C>G
NR_120485.2:n.667-1866C>G
NR_120485.3:n.625-1866C>G
ENST00000303115.7:c.704C>G ENSP00000306157.3:p.Ser235Ter
ENST00000505093.1:c.113C>G ENSP00000426069.1:p.Ser38Ter
ENST00000506850.5:c.704C>G ENSP00000421207.1:p.Ser235Ter
ENST00000509668.1:n.446C>G
ENST00000514217.5:c.538-1866C>G ENSP00000427688.1:n.538-1866C>G
XM_005248299.2:c.704C>G XP_005248356.1:p.Ser235Ter
XM_005248299.4:c.704C>G XP_005248356.1:p.Ser235Ter
XM_005248300.1:c.704C>G XP_005248357.1:p.Ser235Ter
XM_011514037.1:c.704C>G XP_011512339.1:p.Ser235Ter
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