Canonical Allele Identifier: CA116952527
Gene: IL7R HGNC NCBI

Linked Data

dbSNP Id: rs930212523
gnomAD v3: 5-35856374-C-T
gnomAD v4: 5-35856374-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35856374C>T , CM000667.2:g.35856374C>T GRCh38
NC_000005.9:g.35856476C>T , CM000667.1:g.35856476C>T GRCh37
NC_000005.8:g.35892233C>T NCBI36
NG_009567.1:g.4486C>T , LRG_74:g.4486C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000508941.5:c.-2+205C>T ENSP00000426426.1:n.-2+205C>T
ENST00000511031.1:n.216+3436C>T
ENST00000515665.1:c.-315C>T ENSP00000425538.1:n.-315C>T
XR_001742635.1:n.1534-1988G>A