Canonical Allele Identifier: CA3232028
Gene: IL7R HGNC NCBI

Linked Data

dbSNP Id: rs11567764
gnomAD v3: 5-35873503-G-T
gnomAD v4: 5-35873503-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35873503G>T , CM000667.2:g.35873503G>T GRCh38
NC_000005.9:g.35873605G>T , CM000667.1:g.35873605G>T GRCh37
NC_000005.8:g.35909362G>T NCBI36
NG_009567.1:g.21615G>T , LRG_74:g.21615G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000303115.8:c.561G>T MANE Select ENSP00000306157.3:p.Lys187Asn
ENST00000303115.7:c.561G>T ENSP00000306157.3:p.Lys187Asn
ENST00000506850.5:c.561G>T ENSP00000421207.1:p.Lys187Asn
ENST00000509668.1:n.303G>T
ENST00000514217.5:c.538-2009G>T ENSP00000427688.1:n.538-2009G>T
NM_002185.3:c.561G>T NP_002176.2:p.Lys187Asn
NR_120485.1:n.641-2009G>T
XM_005248299.2:c.561G>T XP_005248356.1:p.Lys187Asn
XM_005248300.1:c.561G>T XP_005248357.1:p.Lys187Asn
XM_011514037.1:c.561G>T XP_011512339.1:p.Lys187Asn
NM_002185.4:c.561G>T NP_002176.2:p.Lys187Asn
NR_120485.2:n.667-2009G>T
XM_005248299.4:c.561G>T XP_005248356.1:p.Lys187Asn
NM_002185.5:c.561G>T MANE Select NP_002176.2:p.Lys187Asn
NR_120485.3:n.625-2009G>T