Canonical Allele Identifier: CA3232044

Gene: IL7R

Linked Data

• dbSNP Id: rs769433714
• ExAC: 5:35873710 A / C
• gnomAD v2: 5-35873710-A-C
• gnomAD v4: 5-35873608-A-C
• MyVariant Identifiers: chr5:g.35873710A>C (hg19) ; chr5:g.35873608A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35873608A>C , CM000667.2:g.35873608A>C	GRCh38
NC_000005.9:g.35873710A>C , CM000667.1:g.35873710A>C	GRCh37
NC_000005.8:g.35909467A>C	NCBI36
NG_009567.1:g.21720A>C , LRG_74:g.21720A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303115.8:c.666A>C MANE Select	ENSP00000306157.3:p.Pro222=
ENST00000303115.7:c.666A>C	ENSP00000306157.3:p.Pro222=
ENST00000505093.1:c.75A>C	ENSP00000426069.1:p.Pro25=
ENST00000506850.5:c.666A>C	ENSP00000421207.1:p.Pro222=
ENST00000509668.1:n.408A>C
ENST00000514217.5:c.538-1904A>C	ENSP00000427688.1:n.538-1904A>C
NM_002185.3:c.666A>C	NP_002176.2:p.Pro222=
NR_120485.1:n.641-1904A>C
XM_005248299.2:c.666A>C	XP_005248356.1:p.Pro222=
XM_005248300.1:c.666A>C	XP_005248357.1:p.Pro222=
XM_011514037.1:c.666A>C	XP_011512339.1:p.Pro222=
NM_002185.4:c.666A>C	NP_002176.2:p.Pro222=
NR_120485.2:n.667-1904A>C
XM_005248299.4:c.666A>C	XP_005248356.1:p.Pro222=
NM_002185.5:c.666A>C MANE Select	NP_002176.2:p.Pro222=
NR_120485.3:n.625-1904A>C