Canonical Allele Identifier: CA359428698

Gene: IL7R

Linked Data

• gnomAD v4: 5-35867465-T-C
• MyVariant Identifiers: chr5:g.35867567T>C (hg19) ; chr5:g.35867465T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35867465T>C , CM000667.2:g.35867465T>C	GRCh38
NC_000005.9:g.35867567T>C , CM000667.1:g.35867567T>C	GRCh37
NC_000005.8:g.35903324T>C	NCBI36
NG_009567.1:g.15577T>C , LRG_74:g.15577T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303115.8:c.379+2T>C MANE Select	ENSP00000306157.3:n.379+2T>C
ENST00000303115.7:c.379+2T>C	ENSP00000306157.3:n.379+2T>C
ENST00000506850.5:c.379+2T>C	ENSP00000421207.1:n.379+2T>C
ENST00000511031.1:n.515T>C
ENST00000511982.1:c.381T>C	ENSP00000425309.1:p.Gly127=
ENST00000514217.5:c.379+2T>C	ENSP00000427688.1:n.379+2T>C
NM_002185.3:c.379+2T>C	NP_002176.2:n.379+2T>C
NR_120485.1:n.482+2T>C
XM_005248299.2:c.379+2T>C	XP_005248356.1:n.379+2T>C
XM_005248300.1:c.379+2T>C	XP_005248357.1:n.379+2T>C
XM_011514037.1:c.379+2T>C	XP_011512339.1:n.379+2T>C
NM_002185.4:c.379+2T>C	NP_002176.2:n.379+2T>C
NR_120485.2:n.508+2T>C
XM_005248299.4:c.379+2T>C	XP_005248356.1:n.379+2T>C
NM_002185.5:c.379+2T>C MANE Select	NP_002176.2:n.379+2T>C
NR_120485.3:n.466+2T>C