Canonical Allele Identifier: CA342628530

Gene: IL6R

Linked Data

• dbSNP Id: rs777795126
• gnomAD v2: 1-154437710-A-T
• gnomAD v4: 1-154465234-A-T
• MyVariant Identifiers: chr1:g.154437710A>T (hg19) ; chr1:g.154465234A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465234A>T , CM000663.2:g.154465234A>T	GRCh38
NC_000001.10:g.154437710A>T , CM000663.1:g.154437710A>T	GRCh37
NC_000001.9:g.152704334A>T	NCBI36
NG_012087.1:g.65042A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1261A>T MANE Select	ENSP00000357470.3:p.Thr421Ser
ENST00000344086.8:c.*69A>T	ENSP00000340589.4:n.*69A>T
ENST00000368485.7:c.1261A>T	ENSP00000357470.3:p.Thr421Ser
ENST00000502679.1:n.574A>T
ENST00000507256.1:n.459A>T
NM_000565.3:c.1261A>T	NP_000556.1:p.Thr421Ser
NM_181359.2:c.*69A>T	NP_852004.1:n.*69A>T
XM_005245139.1:c.1025A>T	XP_005245196.1:p.His342Leu
XM_005245140.1:c.*102A>T	XP_005245197.1:n.*102A>T
XM_006711298.1:c.1309A>T	XP_006711361.1:p.Thr437Ser
XM_006711299.2:c.*69A>T	XP_006711362.1:n.*69A>T
XM_005245139.2:c.1025A>T	XP_005245196.1:p.His342Leu
XM_005245140.3:c.*102A>T	XP_005245197.1:n.*102A>T
XM_006711298.2:c.1309A>T	XP_006711361.1:p.Thr437Ser
XM_006711299.4:c.*69A>T	XP_006711362.1:n.*69A>T
XM_017001199.2:c.1408A>T	XP_016856688.1:p.Thr470Ser
XM_017001200.2:c.1360A>T	XP_016856689.1:p.Thr454Ser
XM_017001201.2:c.*102A>T	XP_016856690.1:n.*102A>T
NM_000565.4:c.1261A>T MANE Select	NP_000556.1:p.Thr421Ser
NM_181359.3:c.*69A>T	NP_852004.1:n.*69A>T
NM_001382769.1:c.1360A>T	NP_001369698.1:p.Thr454Ser
NM_001382770.1:c.1354A>T	NP_001369699.1:p.Thr452Ser
NM_001382771.1:c.1309A>T	NP_001369700.1:p.Thr437Ser
NM_001382772.1:c.1255A>T	NP_001369701.1:p.Thr419Ser
NM_001382773.1:c.*69A>T	NP_001369702.1:n.*69A>T
NM_001382774.1:c.901A>T	NP_001369703.1:p.Thr301Ser