Canonical Allele Identifier: CA3232030

Gene: IL7R

Linked Data

• ClinVar Variation Id: 1537647
• ClinVar RCV Id: RCV002092738
• dbSNP Id: rs775310578
• ExAC: 5:35873617 G / T
• gnomAD v2: 5-35873617-G-T
• gnomAD v4: 5-35873515-G-T
• MyVariant Identifiers: chr5:g.35873617G>T (hg19) ; chr5:g.35873515G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35873515G>T , CM000667.2:g.35873515G>T	GRCh38
NC_000005.9:g.35873617G>T , CM000667.1:g.35873617G>T	GRCh37
NC_000005.8:g.35909374G>T	NCBI36
NG_009567.1:g.21627G>T , LRG_74:g.21627G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303115.8:c.573G>T MANE Select	ENSP00000306157.3:p.Leu191=
ENST00000303115.7:c.573G>T	ENSP00000306157.3:p.Leu191=
ENST00000506850.5:c.573G>T	ENSP00000421207.1:p.Leu191=
ENST00000509668.1:n.315G>T
ENST00000514217.5:c.538-1997G>T	ENSP00000427688.1:n.538-1997G>T
NM_002185.3:c.573G>T	NP_002176.2:p.Leu191=
NR_120485.1:n.641-1997G>T
XM_005248299.2:c.573G>T	XP_005248356.1:p.Leu191=
XM_005248300.1:c.573G>T	XP_005248357.1:p.Leu191=
XM_011514037.1:c.573G>T	XP_011512339.1:p.Leu191=
NM_002185.4:c.573G>T	NP_002176.2:p.Leu191=
NR_120485.2:n.667-1997G>T
XM_005248299.4:c.573G>T	XP_005248356.1:p.Leu191=
NM_002185.5:c.573G>T MANE Select	NP_002176.2:p.Leu191=
NR_120485.3:n.625-1997G>T