Canonical Allele Identifier: CA359430606
Gene: IL7R HGNC NCBI

Linked Data

gnomAD v4: 5-35873516-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35873516C>A , CM000667.2:g.35873516C>A GRCh38
NC_000005.9:g.35873618C>A , CM000667.1:g.35873618C>A GRCh37
NC_000005.8:g.35909375C>A NCBI36
NG_009567.1:g.21628C>A , LRG_74:g.21628C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.574C>A MANE Select ENSP00000306157.3:p.Gln192Lys
ENST00000303115.7:c.574C>A ENSP00000306157.3:p.Gln192Lys
ENST00000506850.5:c.574C>A ENSP00000421207.1:p.Gln192Lys
ENST00000509668.1:n.316C>A
ENST00000514217.5:c.538-1996C>A ENSP00000427688.1:n.538-1996C>A
NM_002185.3:c.574C>A NP_002176.2:p.Gln192Lys
NR_120485.1:n.641-1996C>A
XM_005248299.2:c.574C>A XP_005248356.1:p.Gln192Lys
XM_005248300.1:c.574C>A XP_005248357.1:p.Gln192Lys
XM_011514037.1:c.574C>A XP_011512339.1:p.Gln192Lys
NM_002185.4:c.574C>A NP_002176.2:p.Gln192Lys
NR_120485.2:n.667-1996C>A
XM_005248299.4:c.574C>A XP_005248356.1:p.Gln192Lys
NM_002185.5:c.574C>A MANE Select NP_002176.2:p.Gln192Lys
NR_120485.3:n.625-1996C>A