Canonical Allele Identifier: CA3231946

Gene: IL7R

Linked Data

• dbSNP Id: rs763058600
• ExAC: 5:35867671 G / T
• gnomAD v2: 5-35867671-G-T
• gnomAD v4: 5-35867569-G-T
• MyVariant Identifiers: chr5:g.35867671G>T (hg19) ; chr5:g.35867569G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35867569G>T , CM000667.2:g.35867569G>T	GRCh38
NC_000005.9:g.35867671G>T , CM000667.1:g.35867671G>T	GRCh37
NC_000005.8:g.35903428G>T	NCBI36
NG_009567.1:g.15681G>T , LRG_74:g.15681G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303115.8:c.379+106G>T MANE Select	ENSP00000306157.3:n.379+106G>T
ENST00000303115.7:c.379+106G>T	ENSP00000306157.3:n.379+106G>T
ENST00000506850.5:c.379+106G>T	ENSP00000421207.1:n.379+106G>T
ENST00000511982.1:c.*32G>T	ENSP00000425309.1:n.*32G>T
ENST00000514217.5:c.379+106G>T	ENSP00000427688.1:n.379+106G>T
NM_002185.3:c.379+106G>T	NP_002176.2:n.379+106G>T
NR_120485.1:n.482+106G>T
XM_005248299.2:c.379+106G>T	XP_005248356.1:n.379+106G>T
XM_005248300.1:c.379+106G>T	XP_005248357.1:n.379+106G>T
XM_011514037.1:c.379+106G>T	XP_011512339.1:n.379+106G>T
NM_002185.4:c.379+106G>T	NP_002176.2:n.379+106G>T
NR_120485.2:n.508+106G>T
XM_005248299.4:c.379+106G>T	XP_005248356.1:n.379+106G>T
NM_002185.5:c.379+106G>T MANE Select	NP_002176.2:n.379+106G>T
NR_120485.3:n.466+106G>T