Canonical Allele Identifier: CA359430567

Gene: IL7R

Linked Data

• dbSNP Id: rs1188286965
• COSMIC: COSM5737198
• MyVariant Identifiers: chr5:g.35873598G>A (hg19) ; chr5:g.35873496G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35873496G>A , CM000667.2:g.35873496G>A	GRCh38
NC_000005.9:g.35873598G>A , CM000667.1:g.35873598G>A	GRCh37
NC_000005.8:g.35909355G>A	NCBI36
NG_009567.1:g.21608G>A , LRG_74:g.21608G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303115.8:c.554G>A MANE Select	ENSP00000306157.3:p.Ser185Asn
ENST00000303115.7:c.554G>A	ENSP00000306157.3:p.Ser185Asn
ENST00000506850.5:c.554G>A	ENSP00000421207.1:p.Ser185Asn
ENST00000509668.1:n.296G>A
ENST00000514217.5:c.538-2016G>A	ENSP00000427688.1:n.538-2016G>A
NM_002185.3:c.554G>A	NP_002176.2:p.Ser185Asn
NR_120485.1:n.641-2016G>A
XM_005248299.2:c.554G>A	XP_005248356.1:p.Ser185Asn
XM_005248300.1:c.554G>A	XP_005248357.1:p.Ser185Asn
XM_011514037.1:c.554G>A	XP_011512339.1:p.Ser185Asn
NM_002185.4:c.554G>A	NP_002176.2:p.Ser185Asn
NR_120485.2:n.667-2016G>A
XM_005248299.4:c.554G>A	XP_005248356.1:p.Ser185Asn
NM_002185.5:c.554G>A MANE Select	NP_002176.2:p.Ser185Asn
NR_120485.3:n.625-2016G>A