Canonical Allele Identifier: CA160123
Community Standard Title: NM_002185.5(IL7R):c.1241C>T (p.Thr414Met)
Gene: IL7R HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35876347C>T , CM000667.2:g.35876347C>T GRCh38
NC_000005.9:g.35876449C>T , CM000667.1:g.35876449C>T GRCh37
NC_000005.8:g.35912206C>T NCBI36
NG_009567.1:g.24459C>T , LRG_74:g.24459C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002185.5:c.1241C>T MANE Select NP_002176.2:p.Thr414Met
ENST00000303115.8:c.1241C>T MANE Select ENSP00000306157.3:p.Thr414Met
NM_002185.3:c.1241C>T NP_002176.2:p.Thr414Met
NM_002185.4:c.1241C>T NP_002176.2:p.Thr414Met
NR_120485.1:n.1081C>T
NR_120485.2:n.1107C>T
NR_120485.3:n.1065C>T
ENST00000303115.7:c.1241C>T ENSP00000306157.3:p.Thr414Met
ENST00000505093.1:c.556C>T ENSP00000426069.1:n.556C>T
ENST00000505875.1:n.539C>T
ENST00000514217.5:c.*435C>T ENSP00000427688.1:n.*435C>T
XM_005248299.4:c.*358C>T XP_005248356.1:n.*358C>T
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