Canonical Allele Identifier: CA359428729
Gene: IL7R HGNC NCBI

Linked Data

dbSNP Id: rs111370546
gnomAD v2: 5-35867573-G-T
gnomAD v4: 5-35867471-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35867471G>T , CM000667.2:g.35867471G>T GRCh38
NC_000005.9:g.35867573G>T , CM000667.1:g.35867573G>T GRCh37
NC_000005.8:g.35903330G>T NCBI36
NG_009567.1:g.15583G>T , LRG_74:g.15583G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.379+8G>T MANE Select ENSP00000306157.3:n.379+8G>T
ENST00000303115.7:c.379+8G>T ENSP00000306157.3:n.379+8G>T
ENST00000506850.5:c.379+8G>T ENSP00000421207.1:n.379+8G>T
ENST00000511982.1:c.387G>T ENSP00000425309.1:p.Lys129Asn
ENST00000514217.5:c.379+8G>T ENSP00000427688.1:n.379+8G>T
NM_002185.3:c.379+8G>T NP_002176.2:n.379+8G>T
NR_120485.1:n.482+8G>T
XM_005248299.2:c.379+8G>T XP_005248356.1:n.379+8G>T
XM_005248300.1:c.379+8G>T XP_005248357.1:n.379+8G>T
XM_011514037.1:c.379+8G>T XP_011512339.1:n.379+8G>T
NM_002185.4:c.379+8G>T NP_002176.2:n.379+8G>T
NR_120485.2:n.508+8G>T
XM_005248299.4:c.379+8G>T XP_005248356.1:n.379+8G>T
NM_002185.5:c.379+8G>T MANE Select NP_002176.2:n.379+8G>T
NR_120485.3:n.466+8G>T