Canonical Allele Identifier: CA342624789

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154426964T>A (hg19) ; chr1:g.154454488T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154454488T>A , CM000663.2:g.154454488T>A	GRCh38
NC_000001.10:g.154426964T>A , CM000663.1:g.154426964T>A	GRCh37
NC_000001.9:g.152693588T>A	NCBI36
NG_012087.1:g.54296T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1067T>A MANE Select	ENSP00000357470.3:p.Val356Glu
ENST00000344086.8:c.1066+4508T>A	ENSP00000340589.4:n.1066+4508T>A
ENST00000368485.7:c.1067T>A	ENSP00000357470.3:p.Val356Glu
ENST00000502679.1:n.380T>A
ENST00000507256.1:n.265T>A
ENST00000515190.1:c.475T>A
NM_000565.3:c.1067T>A	NP_000556.1:p.Val356Glu
NM_181359.2:c.1066+4508T>A	NP_852004.1:n.1066+4508T>A
XM_005245139.1:c.924+4508T>A	XP_005245196.1:n.924+4508T>A
XM_005245140.1:c.925T>A	XP_005245197.1:p.Cys309Ser
XM_006711298.1:c.1115T>A	XP_006711361.1:p.Val372Glu
XM_006711299.2:c.1114+4508T>A	XP_006711362.1:n.1114+4508T>A
XM_005245139.2:c.924+4508T>A	XP_005245196.1:n.924+4508T>A
XM_005245140.3:c.925T>A	XP_005245197.1:p.Cys309Ser
XM_006711298.2:c.1115T>A	XP_006711361.1:p.Val372Glu
XM_006711299.4:c.1114+4508T>A	XP_006711362.1:n.1114+4508T>A
XM_017001199.2:c.1214T>A	XP_016856688.1:p.Met405Lys
XM_017001200.2:c.1166T>A	XP_016856689.1:p.Met389Lys
XM_017001201.2:c.1024T>A	XP_016856690.1:p.Cys342Ser
NM_000565.4:c.1067T>A MANE Select	NP_000556.1:p.Val356Glu
NM_181359.3:c.1066+4508T>A	NP_852004.1:n.1066+4508T>A
NM_001382769.1:c.1166T>A	NP_001369698.1:p.Met389Lys
NM_001382770.1:c.1160T>A	NP_001369699.1:p.Val387Glu
NM_001382771.1:c.1115T>A	NP_001369700.1:p.Val372Glu
NM_001382772.1:c.1061T>A	NP_001369701.1:p.Val354Glu
NM_001382773.1:c.1114+4508T>A	NP_001369702.1:n.1114+4508T>A
NM_001382774.1:c.707T>A	NP_001369703.1:p.Val236Glu