Canonical Allele Identifier: CA420975620

Gene: IL6R

Linked Data

• dbSNP Id: rs746299332
• gnomAD v3: 1-154454558-C-T
• gnomAD v4: 1-154454558-C-T
• MyVariant Identifiers: chr1:g.154427034C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154454558C>T , CM000663.2:g.154454558C>T	GRCh38
NC_000001.10:g.154427034C>T , CM000663.1:g.154427034C>T	GRCh37
NC_000001.9:g.152693658C>T	NCBI36
NG_012087.1:g.54366C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1137C>T MANE Select	ENSP00000357470.3:p.Leu379=
ENST00000344086.8:c.1066+4578C>T	ENSP00000340589.4:n.1066+4578C>T
ENST00000368485.7:c.1137C>T	ENSP00000357470.3:p.Leu379=
ENST00000502679.1:n.450C>T
ENST00000507256.1:n.335C>T
ENST00000515190.1:c.545C>T
NM_000565.3:c.1137C>T	NP_000556.1:p.Leu379=
NM_181359.2:c.1066+4578C>T	NP_852004.1:n.1066+4578C>T
XM_005245139.1:c.924+4578C>T	XP_005245196.1:n.924+4578C>T
XM_005245140.1:c.995C>T	XP_005245197.1:p.Ser332Phe
XM_006711298.1:c.1185C>T	XP_006711361.1:p.Leu395=
XM_006711299.2:c.1114+4578C>T	XP_006711362.1:n.1114+4578C>T
XM_005245139.2:c.924+4578C>T	XP_005245196.1:n.924+4578C>T
XM_005245140.3:c.995C>T	XP_005245197.1:p.Ser332Phe
XM_006711298.2:c.1185C>T	XP_006711361.1:p.Leu395=
XM_006711299.4:c.1114+4578C>T	XP_006711362.1:n.1114+4578C>T
XM_017001199.2:c.1284C>T	XP_016856688.1:p.Leu428=
XM_017001200.2:c.1236C>T	XP_016856689.1:p.Leu412=
XM_017001201.2:c.1094C>T	XP_016856690.1:p.Ser365Phe
NM_000565.4:c.1137C>T MANE Select	NP_000556.1:p.Leu379=
NM_181359.3:c.1066+4578C>T	NP_852004.1:n.1066+4578C>T
NM_001382769.1:c.1236C>T	NP_001369698.1:p.Leu412=
NM_001382770.1:c.1230C>T	NP_001369699.1:p.Leu410=
NM_001382771.1:c.1185C>T	NP_001369700.1:p.Leu395=
NM_001382772.1:c.1131C>T	NP_001369701.1:p.Leu377=
NM_001382773.1:c.1114+4578C>T	NP_001369702.1:n.1114+4578C>T
NM_001382774.1:c.777C>T	NP_001369703.1:p.Leu259=