Canonical Allele Identifier: CA342624795

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154426967A>T (hg19) ; chr1:g.154454491A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154454491A>T , CM000663.2:g.154454491A>T	GRCh38
NC_000001.10:g.154426967A>T , CM000663.1:g.154426967A>T	GRCh37
NC_000001.9:g.152693591A>T	NCBI36
NG_012087.1:g.54299A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1070A>T MANE Select	ENSP00000357470.3:p.Gln357Leu
ENST00000344086.8:c.1066+4511A>T	ENSP00000340589.4:n.1066+4511A>T
ENST00000368485.7:c.1070A>T	ENSP00000357470.3:p.Gln357Leu
ENST00000502679.1:n.383A>T
ENST00000507256.1:n.268A>T
ENST00000515190.1:c.478A>T
NM_000565.3:c.1070A>T	NP_000556.1:p.Gln357Leu
NM_181359.2:c.1066+4511A>T	NP_852004.1:n.1066+4511A>T
XM_005245139.1:c.924+4511A>T	XP_005245196.1:n.924+4511A>T
XM_005245140.1:c.928A>T	XP_005245197.1:p.Lys310Ter
XM_006711298.1:c.1118A>T	XP_006711361.1:p.Gln373Leu
XM_006711299.2:c.1114+4511A>T	XP_006711362.1:n.1114+4511A>T
XM_005245139.2:c.924+4511A>T	XP_005245196.1:n.924+4511A>T
XM_005245140.3:c.928A>T	XP_005245197.1:p.Lys310Ter
XM_006711298.2:c.1118A>T	XP_006711361.1:p.Gln373Leu
XM_006711299.4:c.1114+4511A>T	XP_006711362.1:n.1114+4511A>T
XM_017001199.2:c.1217A>T	XP_016856688.1:p.Gln406Leu
XM_017001200.2:c.1169A>T	XP_016856689.1:p.Gln390Leu
XM_017001201.2:c.1027A>T	XP_016856690.1:p.Lys343Ter
NM_000565.4:c.1070A>T MANE Select	NP_000556.1:p.Gln357Leu
NM_181359.3:c.1066+4511A>T	NP_852004.1:n.1066+4511A>T
NM_001382769.1:c.1169A>T	NP_001369698.1:p.Gln390Leu
NM_001382770.1:c.1163A>T	NP_001369699.1:p.Gln388Leu
NM_001382771.1:c.1118A>T	NP_001369700.1:p.Gln373Leu
NM_001382772.1:c.1064A>T	NP_001369701.1:p.Gln355Leu
NM_001382773.1:c.1114+4511A>T	NP_001369702.1:n.1114+4511A>T
NM_001382774.1:c.710A>T	NP_001369703.1:p.Gln237Leu